id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
fabry:26312237 | Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease. | [
"The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis. However, there are possible acquired lysosomal diseases associated with pharmacological toxicity, although less attention has been paid to them.",... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n existence of membranous cytoplasmic bodies in biopsied kidney tissues\n <span style=\"font-size: 0.8em... | [
"Fabry disease",
"acquired lysosomal diseases",
"Fabry disease",
"hyperlipidemia",
"myeloma",
"lupus nephritis"
] | null | [
"pharmacological toxicity",
"specific pathological changes"
] | [
"received pitavastatin calcium, clarithromycin, loxoprofen and/or prednisolone"
] | null | [
"proteinuria",
"plasma α-galactosidase A (GLA) activity and the globotriaosylsphingosine (lyso-Gb3) concentrations",
"GLA activity",
"lyso-Gb3 level"
] | [
"normal GLA activity",
"normal lyso-Gb3 level in plasma",
"did not have Fabry disease",
"no medication history of cationic amphiphilic drugs",
"etiology of the inclusions was not clarified"
] |
fabry:26179544 | Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene. | [
"A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 66-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"interstitial nephritis",
"Fabry disease",
"Fabry disease"
] | [
"E66Q mutation in the α-galactosidase A gene",
"E66Q mutation"
] | [
"chronic renal failure"
] | [
"hemodialysis",
"hemodialysis"
] | [
"Japanese"
] | null | [
"no characteristic findings of Fabry disease"
] |
fabry:26090373 | Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia. | [
"A 54-year-old female with Anderson-Fabry disease (AFD)-R342Q missense mutation on exon 7 in alpha-galactosidase A (GLA) gene - presented with sustained ventricular tachycardia. Imaging confirmed the presence of a new left ventricular apical aneurysm (LVAA) and a significantly reduced intra-cavitary gradient compar... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 54-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"AFDcv",
"lysosomal storage disorder",
"AFD",
"hypertrophic cardiomyopathy (HCM)",
"HCM",
"AFD",
"HCM",
"cardiomyopathy",
"HCM",
"AFD"
] | [
"X-linked",
"genetic predisposition"
] | [
"sustained ventricular tachycardia",
"new left ventricular apical aneurysm (LVAA)",
"significantly reduced intra-cavitary gradient",
"Cardiac involvement",
"left ventricular hypertrophy (LVH)",
"Left ventricular apical aneurysm",
"LVAA formation",
"LVAA formation",
"long-standing left ventricular wa... | null | null | [
"GLA enzyme deficiency"
] | null |
fabry:25977923 | High variability of Fabry disease manifestations in an extended Italian family. | [
"Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"metabolic disorder",
"FD",
"Familial Mediterranean Fever",
"Multiple Sclerosis",
"FD",
"Fabry Disease"
] | [
"inherited",
"exonic mutation M51I in the GLA gene, a disease-causing mutation",
"M51I mutation",
"mutations in the GLA gene"
] | [
"severe symptoms"
] | null | null | [
"partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL)",
"impairment of α-GAL"
] | [
"not related to differences in α-GAL enzymatic activity",
"no enzymatic activity",
"asymptomatic"
] |
fabry:25969484 | Lessons from two cases: is Fabry disease the correct diagnosis? | [
"Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmological, cardiovascul... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"systemic diseases",
"FD",
"ED",
"glycogen storage disorder type III"
] | [
"X linked inherited"
] | [
"complex multisystem involvement",
"wide spectrum of clinical manifestations",
"dermatological, ophthalmological, cardiovascular, and urinary and central nervous system findings"
] | null | null | [
"deficiency of the lysosomal enzyme α-galactosidase",
"Deficient enzyme activity",
"ornithine transcarbamylase deficiency"
] | null |
fabry:25787193 | Fabry disease mimicking multiple sclerosis: Lessons from two case reports. | [
"Fabry disease is an X-linked lysosomal storage disorder that can mimic multiple sclerosis. We present two cases of heterozygous adult women where clinical and radiological features initially suggested a diagnosis of multiple sclerosis. This led us to review the early clinical course and neurological features of Fa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"multiple sclerosis",
"multiple sclerosis",
"Fabry disease",
"multiple sclerosis"
] | [
"X-linked",
"heterozygous"
] | [
"clinical and radiological features",
"non-neurologic (systemic) symptoms"
] | null | null | null | null |
fabry:25684266 | Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease. | [
"We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a rare cardiac presentation of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-... | [
"Fabry disease",
"Fabry disease",
"severe form of Fabry disease",
"Fabry disease",
"hypertrophic cardiomyopathy",
"Fabry disease"
] | null | [
"concentric left ventricular hypertrophy",
"dynamic obstruction at mid-left ventricular level",
"apical hypertrophic cardiomyopathy with mid-ventricular obstruction",
"left ventricular hypertrophy"
] | null | null | null | null |
fabry:25566897 | Familial angiokeratoma corporis diffusum without identified enzyme defect. | [
"Angiokeratoma corporis diffusum is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins, most notably Fabry disease. These defects result in many systemic manifestations. Here, we report a rare familial case of angiokera... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"lysosomal diseases",
"Fabry disease"
] | [
"rare inherited"
] | [
"Angiokeratoma corporis diffusum",
"systemic manifestations",
"angiokeratoma corporis diffusum",
"Familial angiokeratoma corporis diffusum"
] | null | null | [
"enzyme deficiencies in the metabolism of glycoproteins"
] | [
"no major systemic manifestations",
"no underlying enzyme defect or gene mutation",
"without identified enzyme defect"
] |
fabry:25547753 | Angiokeratoma of the nasal vestibule: a case report. | [
"Angiokeratomas are benign mucocutaneous lesions which are composed of enlarged veins in the dermis of the skin. Although angiokeratomas may be part of a systemic disease, it is important to distinguish them from other vascular lesions. In this report, we present a rare case of angiokeratoma of the nasal vestibule.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratomas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"systemic disease",
"nasal angiokeratoma",
"systemic diseases",
"Fabry disease"
] | null | [
"Angiokeratomas",
"benign mucocutaneous lesions",
"enlarged veins in the dermis of the skin",
"angiokeratomas",
"vascular lesions",
"angiokeratoma of the nasal vestibule",
"angiokeratoma"
] | null | null | null | null |
fabry:25487570 | Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement. | [
"Enzyme replacement therapy (ERT) was offered from year 2001 to patients with Fabry disease. The ophthalmic experience was analysed, as part of a general 10-year status.",
"A retrospective observational series comprising 39 patients (25 females, 14 males) closely followed by the endocrinologists, and with regular... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry disease",
"nephropathy",
"Fabry",
"serious unilateral occlusive retinal disease"
] | [
"Fabry inheritance"
] | [
"death",
"total unilateral central retinal artery occlusion",
"Cornea verticillata",
"conjunctival vessel ectasies",
"Tortuosity of retinal arterioles and venules",
"phlebopathy",
"Systemic vascular lesions with or without loss of function",
"for kidney",
", heart",
"and brain",
"abnormal morpho... | [
"Enzyme replacement therapy (ERT)",
"ERT",
"enzyme replacement",
"ERT"
] | null | null | [
"non-attendance",
"refused treatment",
"Vision was normal throughout",
"without evidence of loss of vessel wall integrity",
"no indication of impairment of visual parameters"
] |
fabry:25439755 | A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. | [
"The use of intravenous thrombolytic therapy for acute ischemic stroke is associated with improved outcomes. Fabry disease is an X-linked glycosphingolipid storage disease with vascular endothelial deposits. Affected males with the classic phenotype develop renal, cardiac, and cerebrovascular disease and die premat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The use of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intravenous thrombolytic therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Fabry disease",
"glycosphingolipid storage disease",
"Fabry disease",
"Fabry disease",
"Fabry",
"Fabry",
"Fabry disease"
] | [
"X-linked",
"R227X mutation typical of Fabry disease with the classical phenotype"
] | [
"acute ischemic stroke",
"renal, cardiac, and cerebrovascular disease",
"die",
"first ischemic stroke of undetermined cause",
"acute aphasia",
"left M2 segment of the middle cerebral artery thrombus with no recanalization",
"left ventricular hypertrophy of undetermined cause",
"significant stroke",
... | [
"intravenous thrombolytic therapy",
"intravenous thrombolytic therapy",
"intravenous thrombolytic therapy",
"intravenous thrombolytic therapy"
] | null | null | [
"Despite favorable prognostic indicators on admission imaging",
"not complicated by intracranial hemorrhage"
] |
fabry:25327101 | Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports. | [
"We present 2 cases of teenager males presented with burning pain in extremities and turned out to be cases of Fabry disease.The purpose of presenting this case is to highlight the fact that suspicion of Fabry disease in patients presenting with these symptoms will lead to early diagnosis and treatment of this cond... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 2 cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n teenager\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry nephropathy",
"Fabry disease"
] | null | [
"burning pain in extremities",
"severe burning pain in both hands and feet",
"4 yrs",
"small reddish coloured lesions around the umbilicus, appearing like angiokeratomas",
"fatigue",
"pedal oedema",
"severe burning pain in both hands and feet",
"hypertension",
"pallor",
"pedal oedema",
"angioker... | [
"carbamazepine tablets",
"pain",
"genetic diagnosis",
"enzyme replacement therapy",
"conservative treatment",
"carbamazepine in renal dose",
"enzyme replacement therapy"
] | null | [
"alpha galactosidase activity found to be '0' nmol/hr/mg of protein",
"urine had 1+ proteinuria",
"deranged renal function tests",
"sub nephrotic range proteinuria"
] | [
"despite consumption of painkillers",
"without having any family history for such condition",
"creatinine and 2 D ECHO were normal",
"denied any further diagnostic workup for nephropathy or Fabry disease"
] |
fabry:25295576 | A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. | [
"We report the case of a 42-yearold woman diagnosed with heterozygous Fabry disease (FD) due to a novel α-galactosidase A Pro210Ser mutation and exhibiting a unique distribution of synaptopodin within podocytes. The patient was referred to our hospital with moderate proteinuria, and a renal biopsy was performed. Li... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 42-yearold\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"heterozygous Fabry disease (FD)",
"FD",
"FD"
] | [
"novel α-galactosidase A Pro210Ser mutation",
"novel missense mutation (Pro210Ser) in the α-galactosidase A gene",
"structural modeling of the mutated α-galactosidase A (Pro210Ser)"
] | null | null | null | [
"moderate proteinuria",
"detection of urinary globotriaosylceramide secretion",
"podocalyxin",
"synaptopodin"
] | [
"none of the characteristic symptoms of FD",
"hypohidrosis",
"no obvious family history"
] |
fabry:25281798 | A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene. | [
"Anderson/Fabry disease expresses a wide range of clinical variability in patients that it is possible to explain referring to a genetic variability with numerous mutations described in the literature (more than 600).",
"We report some clinical cases of some members of a Sicilian family to express phenotypical va... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson/Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson/Fabry disease",
"FD",
"Anderson/Fabry disease"
] | [
"genetic variability",
"heterozygote subject for Fabry's disease",
"polymorphism: -10 C>T; IVS 2-76_80del5; IVS4-16 A>G; IVS6-22 C<T",
"IVS4+68 A>G, IVS6-22C>T polymorphisms"
] | [
"right frontal periventricular white matter of likely vascular-degenerative origin",
"acroparesthesias",
"hypoidrosis",
"Renal impairment",
"acroparesthesias",
"hypoidrosis",
"classic gastrointestinal involvement",
"recurrent abdominal pain",
"post prandial bloating",
"pain"
] | null | null | [
"high plasma levels of creatinine",
"microalbuminuria date",
"alpha galactosidase A activity was 4.1nmol/mL/h, in whole blood"
] | null |
fabry:25270872 | A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link. | [
"Fabry's disease is a rare X-linked, hereditary lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. Granulomatosis with polyangiitis is characterized by the involvement of the respiratory tract and kidneys. Here, we report the first case of the coexistence of these diseases.",
"We de... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lysosomal storage disease",
"Granulomatosis with polyangiitis",
"coexistence of these diseases",
"Fabry's disease",
"granulomatosis with polyangiitis",
"Fabry's disease",
"granulomatosis with polyangiitis or crescentic glomerulonephritis",
"Fabry's disease",
"granulomatosis wit... | [
"rare X-linked, hereditary"
] | [
"involvement of the respiratory tract and kidneys",
"fever",
"maxillary sinusitis",
"multiple lung nodules"
] | [
"Glucocorticoid and cyclophosphamide",
"enzyme replacement therapy"
] | null | [
"proteinuria",
"low activity of peripheral leukocyte α-galactosidase A"
] | [
"Progression to end-stage renal disease has not been observed for 6 years"
] |
fabry:25246064 | Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction. | [
"Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is cardiomyopathy characterized by left ventricular (LV) hypertrophy, usually concentric. Heart disease in affected females tends to be clinically... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"cardiomyopathy",
"Heart disease",
"Fabry disease",
"Fabry disease",
"Fabry cardiomyopathy",
"Fabry disease"
] | [
"rare X-linked",
"mutations in the alpha-galactosidase gene",
"heterozygous for a nonsense alpha-galactosidase gene mutation (p.R220X)",
"heterozygous"
] | [
"left ventricular (LV) hypertrophy, usually concentric",
"cardiac complications",
"death",
"LV noncompaction",
"LV noncompaction",
"cardiac Fabry disease",
"LV hypertrabeculation/noncompaction"
] | [
"enzyme replacement therapy"
] | null | null | [
"asymptomatic",
"without LV wall hypertrophy"
] |
fabry:25232851 | Fabry disease in infancy and early childhood: a systematic literature review. | [
"Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry",
"Fabry disease"
] | [
"pan-ethnic",
"progressive, X-linked genetic disorder"
] | [
"Fabry symptoms",
"acroparesthesias/neuropathic pain",
"gastrointestinal issues",
"early presenting symptoms"
] | null | null | [
"deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A)"
] | null |
fabry:25086909 | Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation. | [
"A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 52 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Klinefelter syndrome",
"Fabry cardiomyopathy",
"Klinefelter syndrome"
] | [
"homozygous sex-linked recessive mutation"
] | [
"chest tightness",
"rapid atrial fibrillation",
"hypotension",
"symmetrical left ventricular hypertrophy",
"minimal diastolic dysfunction",
"cardiac manifestation"
] | null | null | null | null |
fabry:25040344 | Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance. | [
"Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This is a case series stud... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease' (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Fabry disease' (FD)",
"non-classical FD",
"non-classical FD",
"FD",
"non-classical FD",
"FD-like storage"
] | [
"alpha-galactosidase A gene mutations (GLA)",
"p.A143T)",
"Co-segregating sarcomeric mutations",
"p.P60L)",
"p.P60L is",
"p.R112H",
"variable penetrance of this mutation",
"GLA mutations"
] | [
"hypertrophic cardiomyopathy (HCM)",
"histology",
"non-specific findings",
"HCM"
] | [
"chloroquine use"
] | null | [
"plasma globotriaosylsphingosine",
"high residual alpha-galactosidase A activity (AGAL-A)",
"residual AGAL-A",
"minimally increased plasma globotriaosylsphingosine",
"AGAL-A <5%",
"slightly elevated plasma globotriaosylsphingosine (1.2-2.0 classical males >50 nmol/l)"
] | [
"no FD",
"absent classical FD signs",
"normal plasma globotriaosylsphingosine",
"Cardiac biopsy excluded FD",
"no classical FD signs",
"non-pathogenic",
"Non-specific complications",
"no FD",
"Other (genetic) causes of FD-like findings"
] |
fabry:25030479 | Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. | [
"Anderson-Fabry disease (AFD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a deficiency in the enzyme α-galactosidase A (α-Gal A). Anderson-Fabry cardiomyopathy is characterized by structural, valvular, vascular and conduction abnormalities, and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"lysosomal storage disease",
"Anderson-Fabry cardiomyopathy",
"AFD",
"AFD",
"AFD",
"Anderson-Fabry disease",
"AFD",
"AFD",
"AFD",
"Anderson-Fabry cardiomyopathy",
"AFD cardiomyopathy"
] | [
"X-linked disorder"
] | [
"structural, valvular, vascular and conduction abnormalities",
"AFD progression",
"heart failure",
"LVH",
"increased susceptibility to arrhythmias",
"valvular regurgitation"
] | [
"enzyme replacement therapy (ERT)",
"gene therapy",
"molecular chaperones",
"ERT"
] | null | [
"deficiency in the enzyme α-galactosidase A (α-Gal A)"
] | null |
fabry:25026990 | Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology. | [
"Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging\n <span style=\"fon... | [
"Fabry disease",
"lipid storage disorder",
"cardiomyopathic",
"Fabry disease",
"Fabry"
] | [
"X linked"
] | [
"myocardial involvement",
"myocardial fibrosis",
"myocardial fibrosis",
"LV hypertrophy",
"LGE of the LV inferolateral wall",
"cardiac fibrosis",
"of organ involvement"
] | null | [
"Caucasian"
] | null | [
"without left ventricular (LV) hypertrophy",
"without LV hypertrophy",
"or other clinical signs of the disease"
] |
fabry:24961278 | Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. | [
"Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in order to draw clinical less... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare genetic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"rare genetic disease",
"rare genetic disorders",
"rare genetic disorder",
"causal nephropathy",
"HNF-1B-associated nephropathy",
"UMOD-related nephropathy",
"Fabry disease",
"INF2 focal segmental glomerulosclerosis",
"Senior-Løken syndrome",
"2,8-DHA nephropathy"
] | [
"rare genetic disorders",
"rare genetic diseases"
] | [
"severe complications",
"acute renal failure and jeopardizing the graft"
] | [
"renal transplantation (KTx)",
"KTx",
"KTx",
"kidney transplant (KTx) recipients",
"Kidney transplant recipients",
"KTx",
"KTx recipients"
] | null | [
"2,8-dihydroxyadeninuria (2,8-DHA) disease"
] | [
"without a correct diagnosis of causal nephropathy",
"without a diagnosis of causal nephropathy",
"without a known causal nephropathy"
] |
fabry:24943083 | [Ischemic stroke in a young woman of Turner syndrome with T1-weighted imaging-pulvinar sign]. | [
"A 39-year-old woman developed right hemiparesis in a few days. Magnetic resonance images revealed cerebral infarction in the territory of the left lenticulostriate artery, and MR angiography showed severe stenosis of the middle and anterior cerebral arteries and moderate one of the vertebral arteries. Bilateral an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 39-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Turner syndrome",
"Turner syndrome"
] | [
"mosaicism of 45XO and 46X,r(X) (60%:40%)"
] | [
"right hemiparesis in a few days",
"cerebral infarction in the territory of the left lenticulostriate artery",
"severe stenosis of the middle and anterior cerebral arteries and moderate one of the vertebral arteries",
"Bilateral and symmetric T1 hyperintensity in the pulvinar (T1-weighted imaging-pulvinar sig... | null | null | null | [
"α-galactosidase A gene analysis, however, showed no mutation"
] |
fabry:24913738 | Coexistence of Fabry disease and IgA nephropathy: a report of two cases. | [
"Coexistence of Fabry disease and IgA nephropathy is rare. Moreover, the coexisting Fabry disease may be unrecognized due to unapparent clinical manifestations.",
"We described two cases with coexisting Fabry disease and IgA nephropathy. The clinicopathological features of these two patients were studied.",
"A ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Coexistence of Fabry disease and IgA nephropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Coexistence of Fabry disease and IgA nephropathy",
"coexisting Fabry disease",
"coexisting Fabry disease and IgA nephropathy",
"IgA nephropathy",
"IgA nephropathy",
"coexisting Fabry disease",
"Fabry disease",
"rare coexistence with IgA nephropathy"
] | null | [
"hypertension"
] | null | null | [
"proteinuria",
"hematuria",
"proteinuria",
"deficient α-galactosidase A activity"
] | [
"without clinical signs or family history of Fabry disease",
"Fabry disease was not suspected"
] |
fabry:24897976 | Dermatologic manifestations and neuropathic symptoms in women with Fabry disease. | [
"Fabry disease (angiokeratoma corporis diffusum universale) is a rare, progressive, X-linked lysosomal storage disease. Deficiency of the α-galactosidase A (α-gal A) enzyme leads to accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
")",
"rare, progressive",
"lysosomal storage disease"
] | [
"X-linked",
"haplotype corresponding to the combination of three different nucleotide polymorphic variants (g. 7192-7198del5+ g. 10115A>G + g. 10956 C>T) at the heterozygous state,"
] | [
"angiokeratoma corporis diffusum universale",
"two classic signs of Fabry disease",
"angiokeratomas",
"episodic acroparesthesias"
] | null | null | [
"Deficiency of the α-galactosidase A (α-gal A) enzyme"
] | [
"absence of other clinical manifestations"
] |
fabry:24830310 | Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up. | [
"Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We descr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sarcomeric hypertrophic cardiomyopathy (HCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Sarcomeric hypertrophic cardiomyopathy (HCM)",
"Anderson-Fabry disease (AFD)",
"multisystemic",
"familial HCM",
"previously unknown multisystemic AFD"
] | [
"novel pathogenic mutation in the GLA gene"
] | [
"unexplained left ventricular hypertrophy",
"predominantly cardiac phenotype mimicking HCM"
] | null | null | null | [
"no identified sarcomeric mutations"
] |
fabry:24778057 | Fabry disease simulating Crohn's ileitis. | [
"Fabry disease is an inherited (X-linked) lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to accumulation of globotriaosylceramide in various tissues. A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal pain, undulating ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Crohn's ileitis",
"Fabry disease"
] | [
"inherited (X-linked)"
] | [
"severe abdominal pain",
"undulating pyrexia",
"weight loss",
"diarrhea",
"thick-walled occluded vessels",
"calcifications",
"gastrointestinal phenotype",
"symptoms resembling abdominal Crohn's disease"
] | null | null | [
"deficiency of α-galactosidase A"
] | null |
fabry:24679964 | Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. | [
"Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G.",
"Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases.",
... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"multisystemic lysosomal-storage condition",
"Cardiac/renal/neurological disease",
"cardiomyopathy",
"early renal disease"
] | [
"X-linked",
"the mutation",
"novel mutation p.M187R/g7219 T>G"
] | [
"Delta wave suggestive of accessory pathway",
"cardiac arrest (ventricular fibrillation",
"died",
"Cardiac-subscore of Mainz Severity-Score-Index was severe",
"died",
"particularly malignant cardiac phenotype",
"Short-PR with delta"
] | [
"dialysis"
] | [
"Spanish"
] | [
"α-Gal-A activity"
] | [
"spite of kidney-heart transplant"
] |
fabry:24661928 | Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C. | [
"Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene, which encodes the enzyme α-galactosidase A. A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids, which may cause left ventricular hypertrophy that is typically concentric and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson-Fabry disease",
"lysosomal storage disorder",
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease"
] | [
"X-linked",
"abnormalities of the GLA gene",
"missense point mutation in the GLA gene (p.R118C)",
"missense mutation R118C"
] | [
"left ventricular hypertrophy that is typically concentric and symmetric",
"dyspnea",
"atypical chest pain",
"palpitations",
"apical variant of hypertrophic cardiomyopathy",
"left ventricular hypertrophy",
"apical form of left ventricular hypertrophy",
"unexplained left ventricular hypertrophy",
"ap... | null | null | [
"deficiency of this enzyme",
"reduced α-galactosidase A enzymatic activity"
] | [
"Analysis of specific sarcomeric genetic mutations was negative"
] |
fabry:24626659 | Fabry disease: clinical and genotypic aspects of three cases in first degree relatives. | [
"Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease"
] | [
"X-linked"
] | [
"renal, cardiovascular and/or cerebral complications",
"reduce life expectancy",
"Angiokeratomas",
"asymptomatic lesions",
"late complications",
"acroparestesias",
"angiokeratomas"
] | [
"treatment with enzyme replacement therapy"
] | null | null | null |
fabry:24561538 | KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia. | [
"KCNJ2 mutations are associated with a variety of inherited arrhythmia syndromes including catecholaminergic polymorphic ventricular tachycardia 3.",
"To characterize the detailed cellular mechanisms of the clinically recognized KCNJ2 mutation R67Q.",
"Kir2.1 current density was measured from COS-1 cells transi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n KCNJ2 mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"catecholaminergic polymorphic ventricular tachycardia",
"arrhythmia syndromes"
] | [
"KCNJ2 mutations",
"inherited arrhythmia syndromes",
"heterozygous missense mutation in KCNJ2 (R67Q-Kir2.1)",
"Phosphorylation-deficient mutants",
"S425N-Kir2.1 and S425N-Kir2.1/R67Q-S425N-Kir2.1",
"-Kir2.1 and R67Q-Kir2.1",
"R67Q-Kir2.1/WT-Kir2.1 failed to increase peak outward current density",
"R67... | [
"catecholaminergic polymorphic ventricular tachycardia-like clinical phenotype",
"complete suppression of arrhythmias",
"symptom resolution",
"rectification index (RI) similar to that",
"decreased RI in the high-calcium pipette solution (RI 20.3% ± 4.1%",
"RI 36.5% ± 5.7%)",
"adrenergic-dependent clinic... | [
"Catecholamine activity",
"protein kinase A-stimulating cocktail exposure",
"nadolol and flecainide",
"PKA stimulation"
] | null | [
"WT-Kir2.1 increased by 46%"
] | [
"R67Q-Kir2.1 expressed alone did not produce inward rectifier current"
] |
fabry:24398019 | De novo mutation in a male patient with Fabry disease: a case report. | [
"Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including mis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"metabolic condition",
"FD",
"severe form of Fabry disease",
"end-stage renal disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked inherited",
"human GLA gene",
"missense and nonsense mutations, small and large deletions",
"mutations are usually inherited",
"mutation c.493 G > C in the third exon of the GLA gene",
"amino acid substitution D165H in the protein",
"mutation affects the amino acid - belonging to the group of ... | [
"cornea verticillata",
"angiokeratomas",
"cardiac and neurological manifestations",
"heat intolerance with reduced enzymatic activity",
"classical clinical manifestations of the disease",
"irreversible vital organ damage"
] | [
"genetic counselling",
"enzyme replacement therapy"
] | null | [
"deficit of the α-galactosidase A enzyme",
"the GLA gene",
"low α-galactosidase A activity",
"reduced enzyme activity"
] | [
"negative family history"
] |
fabry:24380807 | Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease. | [
"Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry's disease is an X-linked lysosomal storage disorder c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Adult polyglucosan body disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Adult polyglucosan body disease",
"Fabry's disease",
"lysosomal storage disorder",
"Fabry's disease",
"adult polyglucosan body disease",
"Fabry's disease"
] | [
"rare autosomal recessive disease",
"glycogen branching enzyme gene mutations",
"X-linked",
"α-galactosidase A gene mutations",
"hemizygous mutation (p.Ala143Thr) in α-galactosidase A gene",
"two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene",
"p.Ala143Thr ... | [
"urinary dysfunction",
"spastic paraplegia",
"vibration sense loss",
"peripheral neuropathy",
"cognitive impairment",
"neurological manifestations",
"cerebrovascular accidents",
"small-fibre neuropathy",
"autonomic dysfunction",
"stroke-like episodes",
"hypohidrosis",
"progressive walking diff... | null | [
"Sicilian"
] | [
"mild proteinuria"
] | [
"which were considered atypical for Fabry's disease"
] |
fabry:24380183 | Rare diseases: what do you need to know? | [
"This six-part series on rare diseases aims to increase awareness and offer advice on how nurses can help patients. Part 1 uses a case study to illustrate the complexity of caring for people with rare diseases and provides pointers on how the care of this patient group can be improved."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This six-part series on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"rare diseases",
"rare diseases"
] | null | null | null | null | null | null |
fabry:24334114 | Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease. | [
"This study investigated the potential relationship between the expression levels of lysosome-associated membrane proteins (LAMP) 1 and 2 and responses to enzyme replacement therapy (ERT) in the members of a single family with Fabry disease (FD). LAMP levels were assessed by flow cytometry in leukocytes from 17 FD ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study investigated the potential relationship between the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n expression levels of lysosome-associated membr... | [
"FD",
"FD"
] | null | null | [
"enzyme replacement therapy (ERT)",
"received an eight-month course of ERT course",
"ERT administration",
"ERT"
] | null | [
"expression levels of lysosome-associated membrane proteins (LAMP) 1 and 2",
"LAMP levels",
"the LAMP-1 and LAMP-2 levels in phagocytes from the FD",
"continuously decreased",
"to reach levels similar to those in",
"LAMP-1 and LAMP-2"
] | null |
fabry:24333525 | An unusual case of familial lymphedema. | [
"A 47-year-old man with stable stage II chronic kidney disease and episodic diarrhea presented with chronic, progressive bilateral lower extremity lymphedema. His mother and 2 brothers had similar acral swelling. Thus, a diagnosis of typical primary familial lymphedema was suspected. Approximately 1 year later, pro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 47-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"stable stage II chronic kidney disease",
"typical primary familial lymphedema",
"Fabry disease",
"Fabry disease",
"familial lymphedema"
] | null | [
"episodic diarrhea",
"chronic, progressive bilateral lower extremity lymphedema"
] | null | null | [
"progressive azotemia",
"proteinuria"
] | null |
fabry:24315003 | Successful treatment of renal failure caused by multiple myeloma with HLA-identical living kidney and bone marrow transplantation: a case report. | [
"Here we have described a successful HLA-identical living allogeneic kidney transplantation after bone marrow transplantation in a patient with end-stag liver disease caused by multiple myeloma (MM). Our case is unique, because this combined transplantation is rarely possible and because of our unique immunosuppres... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Here we have described a successful \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n HLA-identical living allogeneic kidney transplantation after bone marrow ... | [
"end-stag liver disease",
"multiple myeloma (MM)",
"ESRD MM",
"κ light-chain nephropathy",
"incipient relapse phase of MM",
"steroid-responsive acute graft-versus-host disease (grade II, predominantly bowel)",
"MM",
"ESRD"
] | null | [
"partial remission",
"well-functioning kidney graft",
"Severe oropharyngeal infections",
"diarrhea",
"sepsis",
"renal failure",
"diarrhea",
"left subclavian vein thrombosis at the site of a central venous catheter",
"sepsis",
"stable kidney function",
"complete remission",
"complete remission"... | [
"HLA-identical living allogeneic kidney transplantation after bone marrow transplantation",
"combined transplantation",
"Cytostatic treatment",
"autologous peripheral stem cell transplantation (SCT)",
"complete remission",
"Kidney transplantation was performed with a combination of tacrolimus sirolimuns, ... | null | [
"normal protein excretion",
"minimal trough levels"
] | [
"remained anuric",
"Fearing acute renal rejection",
"no complications",
"without immunosuppression"
] |
fabry:24167512 | Initially Nondiagnosed Fabry's Disease when Electron Microscopy Is Lacking: The Continuing Story of Focal and Segmental Glomerulosclerosis. | [
"Focal and segmental glomerulosclerosis is classified as either primary or secondary. We present a patient with a past history of biopsy-proven focal and segmental glomerulosclerosis. Despite initial response to dual blockade and steroids, proteinuria raised when steroids were decreased. After the patient was resta... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Focal and segmental glomerulosclerosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Focal and segmental glomerulosclerosis",
"biopsy-proven focal and segmental glomerulosclerosis",
"Fabry's disease",
"glomerulosclerosis",
"Fabry's disease"
] | null | [
"secondary hemodynamic and immunologic pathways",
"renal disease"
] | [
"restarted on steroids",
"agalsidase β was prescribed in parallel with steroid tapering",
"steroid discontinuation",
"meprednisone administration"
] | null | [
"proteinuria raised",
"α-galactosidase A serum and leukocyte deficiency",
"Proteinuria decreased",
"proteinuria",
"proteinuria"
] | [
"Despite initial response to dual blockade and steroids",
"when steroids were decreased",
"proteinuria did not improve",
"despite specific treatment"
] |
fabry:24140492 | Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease. | [
"Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of α-galactosidase A (α-gal A), a lysosomal hydrolase. This inactivation is responsible for the accumulation of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. Fa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"metabolic disorder",
"Fabry",
"FD",
"FD",
"FD",
"FD"
] | [
"hereditary",
"human GLA gene",
"novel mutation in the fifth exon, called N249K",
"N249K mutation"
] | [
"left ventricular hypertrophy",
"chronic renal failure",
"acroparaesthesias",
"several cardiovascular manifestations",
"cardiac manifestations"
] | null | null | [
"partial or total inactivation of α-galactosidase A (α-gal A), a lysosomal hydrolase"
] | [
"no α-galactosidase A activity"
] |
fabry:24104692 | Angiokeratomas - When is a few too many? | [
"Many patients have a few scattered angiokeratoma and we reassure them that this it is normal; however, if they are numerous, Fabry disease should be considered and the family history should be checked."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Many patients have a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n few scattered angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Fabry disease"
] | null | [
"few scattered angiokeratoma"
] | null | null | null | [
"is normal"
] |
fabry:23992477 | Fabry's disease with LVOT obstruction: diagnosis and management. | [
"A 46-year-old male was diagnosed with hypertrophic cardiomyopathy (HCM) and severe left ventricular outflow tract (LVOT) obstruction. Genetic testing revealed that this was a \"mimic of HCM\" and the true diagnosis was Fabry's disease, although there were no other clinical features of Fabry's. Despite maximal medi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hypertrophic cardiomyopathy (HCM)",
"mimic of HCM",
"Fabry's disease",
"HCM"
] | null | [
"severe left ventricular outflow tract (LVOT) obstruction",
"remained symptomatic from the outflow tract gradient"
] | [
"surgical myectomy",
"symptom relief"
] | null | null | [
"no other clinical features of Fabry's",
"Despite maximal medical therapy"
] |
fabry:23980562 | Intrafamilial phenotypic variability in four families with Anderson-Fabry disease. | [
"We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We analysed the clinical history of 16 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hemizygous males\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Anderson-Fabry Disease"
] | [
"hemizygous males"
] | [
"died",
"intrafamilial phenotypic variability",
"intrafamilial phenotypic variability"
] | [
"enzyme replacement therapy (ERT) for a period of 5-10 years"
] | null | null | null |
fabry:23913314 | A case of Fabry nephropathy with histological features of oligonephropathy. | [
"Newborn screening studies indicate the expected high incidence of later-onset Fabry disease with silent Fabry nephropathy while, with recent improved clinical care of premature infants, children with congenital oligonephropathy caused by premature embryonal development of the kidney are thought to be increasing. H... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Newborn screening studies indicate the expected high incidence of later-onset \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=... | [
"Fabry disease",
"silent Fabry nephropathy",
"congenital oligonephropathy",
"coexistence of Fabry nephropathy",
"oligonephropathy",
"Fabry nephropathy",
"Fabry",
"co-occurrence of Fabry nephropathy and oligonephropathy",
"Fabry disease"
] | [
"missense mutation, R112H, in the GLA gene"
] | [
"premature embryonal development of the kidney",
"histological features of oligonephropathy",
"mild renal dysfunction"
] | [
"treatment with enzyme replacement therapy and an angiotensin-converting enzyme inhibitor"
] | null | [
"mild proteinuria",
"plasma and leukocyte α-galactosidase A (GLA) activities were markedly decreased",
"plasma globotriaosylsphingosine and urine globotriaosylceramide levels were increased"
] | [
"neither characteristic early symptoms nor a family history of Fabry disease"
] |
fabry:23906479 | Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. | [
"Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years. Neither of the boys complained of pain, while both suffered from hy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry disease",
"angiokeratoma",
"Fabry disease",
"Fabry",
"Fabry disease"
] | null | [
"angiokeratomas were found on the older sibling",
"hypohidrosis",
"sweating",
"Pain sensation was regained",
"Angiokeratomas on the lateral side of the knee of the older sibling partially disappeared",
"was lower than the corresponding average age-related heights",
"growth rate seemed to indicate catch-... | [
"Enzyme replacement therapy (ERT)",
"ERT with recombinant human agalsidase alfa (Replagal®",
")",
"of ERT",
"adhere to ERT",
"12 to 36 months of ERT",
"48 to 60 months",
"48 months of ERT",
"ERT",
"ERT"
] | [
"Japanese",
"Osaka",
"Japan",
"Japanese"
] | null | [
"complained of pain",
"Immunoglobulin G anti-agalsidase alfa antibodies were not detected in both sibling during ERT",
"no infusion-associated reaction"
] |
fabry:23867994 | A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure. | [
"Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited.",
"In this study, the α-gal A gene of a Ch... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"rare disease",
"FD",
"FD",
"FD",
"FD"
] | [
"X-linked recessive inborn error of glycosphingolipid metabolism",
"mutations of the α-galactosidase A (α-gal A) gene",
"α-gal A gene",
"single C-to-T transition was identified in codon 112 of exon 2",
"This C-to-T transition, mapping to position 334 in the cDNA of the α-gal A gene, was a missense mutation ... | [
"end-stage renal failure",
"renal damage"
] | null | [
"Chinese",
"Chinese"
] | [
"α-gal A activity of",
"was 0.03 nmol/ml/h in the whole blood"
] | [
"No further mutations were found in other exons of the α-gal A gene"
] |
fabry:23864039 | Heart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's disease. | [
"We describe a female patient with systemic lupus erythematosus (SLE) also diagnosed with Fabry's disease and anti-phospholipid antibody syndrome (APS). SLE and Fabry's disease are both systemic diseases with variable clinical presentations. Recent studies have shown a relatively high incidence of late onset Fabry'... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"systemic lupus erythematosus (SLE)",
"Fabry's disease",
"anti-phospholipid antibody syndrome (APS)",
"SLE",
"Fabry's disease",
"systemic diseases",
"late onset Fabry's disease",
"association between SLE and Fabry's disease",
"SLE"
] | [
"heterozygous individuals"
] | null | null | null | null | null |
fabry:23691425 | A single lung transplant in a patient with fabry disease: causality or far-fetched? A case report. | [
"Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-galactosidase A deficiency resulting in globotriaosylceramide storage within cells. Subsequently, various organ systems are involved, clinically the most important are kidneys, the heart, and the peripheral and central... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Introduction. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"chronic obstructive pulmonary disease (COPD)",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"beneath widespread disease",
"chronic kidney disease"
] | [
"rare X-linked"
] | [
"various organ systems",
"kidneys, the heart",
"the peripheral and central nervous systems",
"obstructive lung disease",
"pulmonary involvement",
"respiratory impairment"
] | [
"received a single lung transplant",
"lung transplant",
"specific enzyme replacement therapy"
] | null | [
"α-galactosidase A deficiency"
] | null |
fabry:23634271 | A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease. | [
"We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an unusual case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cerebral aneurysmal subarachnoid hemorrage (SAH)\n <span style=\"font-size: 0... | [
"Fabry's disease",
"nephrosialidosis (mucolipidosis of lysosomal stroage disease)",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"cerebral aneurysmal subarachnoid hemorrage (SAH)",
"aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery",
"aneurysmal SAH",
"aneurysmal SAH"
] | [
"endovascular coil embolization of aneurysm"
] | null | [
"sign of proteinuria in urine analysis"
] | [
"without any neurological deficit"
] |
fabry:23608164 | Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P. | [
"Fabry disease, an X-linked lysosomal sphingolipid storage disorder caused by mutation of the α-galactosidase A (GLA) gene, results in systemic organ damage. However, the age of onset of clinical manifestations and course of the disease are variable even within the same family.",
"In this study, we evaluated the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal sphingolipid storage disorder",
"Fabry disease"
] | [
"X-linked",
"mutation of the α-galactosidase A (GLA) gene",
"molecular lesions associated with the GLA gene",
"hemizygous males",
"novel missense mutation was identified at codon 220 in exon 5, thus resulting in an arginine to proline substitution (R220P)",
"hemizygous",
"hemizygotes",
"novel missense... | [
"systemic organ damage",
"cardiac and neurological manifestations",
"severe left ventricular (LV) hypertrophy",
"LV hypertrophy",
"neurological manifestations",
"complete atrioventricular block",
"cardiac and neurological manifestations",
"advanced organ damage in the heart and brain",
"life-threate... | null | [
"Japanese",
"Japanese"
] | null | [
"could not find any organ damage in a young hemizygous male",
"renal failure is lacking"
] |
fabry:23591357 | [A boy with Fabry disease with the onset at the age of four]. | [
"Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA). Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfuncti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive",
"splicing mutation IVS6+2 T>C was identified on his GLA gene"
] | [
"severe painful neuropathy",
"progressive renal, cardiovascular, and cerebrovascular dysfunction",
"episodic pain for 7 years",
"episodic burning pain in the toes",
"Generalized aching and pain in the feet became progressive",
"hands were also affected",
"insidious onset",
"complex and non-specific cl... | [
"enzyme replacement therapy",
"genetic counseling"
] | [
"Chinese",
"Mainland China"
] | [
"deficiency of α-galactosidase A (GLA)",
"Significantly decreased GLA activity of peripheral leucocytes [1.0 nmol/(h×mg protein) vs. normal control 24.5 to 86.1 nmol/(h×mg protein)]",
"GLA enzyme activity"
] | [
"lack of specific symptoms",
"Divers analgesics were tried without effects",
"none of complications was found in his heart, brain, kidneys, skin and eyes",
"routine laboratory examinations"
] |
fabry:23560140 | Fabry cardiomyopathy. | [
"Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the α-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues through... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"disorder of glycosphingolipid metabolism",
"Fabry disease",
"end-stage renal disease of unknown etiology",
"Fabry disease",
"Fabry disease"
] | [
"progressive X-linked",
"α-Gal A gene mutation"
] | [
"progressive left ventricular hypertrophy (LVH)",
"LVH",
"aggravated exertional dyspnea of two weeks duration",
"concentric LVH",
"Left ventricular systolic function was preserved",
"diastolic dysfunction was present"
] | [
"renal transplantation",
"treated with oral immunosuppressive agents"
] | null | [
"deficiency of the α-galactosidase lysosomal enzyme",
"partial or complete deficiency of the lysosomal enzyme",
"low plasma α-galactosidase A (α-Gal A) activity"
] | null |
fabry:23551399 | Segmental cherry angiomas associated with extragenital lichen sclerosus: a report of two cases. | [
"Cherry angiomas (Campbell de Morgan spots) are common acquired red skin papules composed of dilated capillary loops, usually of unknown aetiology. Extragenital lichen sclerosus (LS) presents as porcelain-white scaly atrophic lesions with or without genital involvement. We report two cases of segmental multiple che... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cherry angiomas (Campbell de Morgan spots)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Extragenital lichen sclerosus (LS)",
"extragenital LS",
"LS"
] | [
"genetic mosaicism"
] | [
"Cherry angiomas (Campbell de Morgan spots)",
"acquired red skin papules composed of dilated capillary loops",
"porcelain-white scaly atrophic lesions with or without genital involvement",
"segmental multiple cherry angiomas",
"extragenital LS affecting their axillae and lower abdomen",
"several hundred r... | null | null | null | [
"segmental Fabry disease was excluded",
"sequence analysis of the α-galactosidase A gene"
] |
fabry:23545674 | A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase A gene. | [
"We herein describe the case of a 58-year-old man who presented with dilated-phase hypertrophic cardiomyopathy (HCM) and required an implantable cardioverter defibrillator implant. Subsequently, the patient was diagnosed with Fabry disease (FD), which was suspected based on the results of an endomyocardial biopsy a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein describe the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"dilated-phase hypertrophic cardiomyopathy (HCM)",
"Fabry disease (FD)",
"FD",
"HCM"
] | [
"novel point mutation in the 3' splice site consensus sequence of intron 5 in the gene encoding GLA that created a new splicing site, resulting in the expression of mutant mRNA"
] | [
"severe tachyarrhythmia"
] | [
"implantable cardioverter defibrillator implant"
] | null | [
"deficient α-galactosidase A (GLA) activity"
] | [
"without other remarkable manifestations of FD"
] |
fabry:23537685 | What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease. | [
"Fabry disease is an X-linked inborn error of metabolism, which is caused by the deficiency of α-galactosidase A, leading to progressive accumulation of neutral glycosphingolipids and a-galactosyl breakdown products in most body fluids and several tissues, resulting in the clinical manifestations. The onset of Fabr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Moyamoya disease",
"chronic progressive cerebrovascular disease",
"Fabry disease",
"Moyamoya disease",
"Fabry disease",
"Fabry disease",
"Moyamoya disease"
] | [
"X-linked",
"inborn error of metabolism",
"missense mutation: c1066C > T (het) [R356W]"
] | [
"relapsing strokes",
"signs of microangiopathy",
"multiple lacunar strokes",
"stroke",
"neurological",
"similarities in the pathogenic aspects of the patient's vascular lesions"
] | null | null | [
"deficiency of α-galactosidase A",
"increased levels of serum creatinine",
"proteinuria"
] | [
"lack of acute or chronic pain (neuropathic pain)",
"angiokeratomas"
] |
fabry:23516103 | [White matter lesions, young age, female--differential diagnosis of multiple sclerosis and juvenile stroke]. | [
"Fabry's disease is an X-chromosomal linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A. Accumulation of toxic levels of sphingolipids leads to metabolic dysfunction in various cell types (endothelial cells, myocytes, fibroblasts) and organs thus causing a variety of symptoms. Ne... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lysosomal storage disease",
"Fabry's disease"
] | [
"X-chromosomal linked recessive"
] | [
"Neurological manifestations",
"recurrent strokes",
"polyneuropathy",
"pain",
"vertigo",
"polymorphic symptoms",
"white matter lesions"
] | null | null | null | [
"mistreatment",
"misdiagnosed and thus mistreated for many years"
] |
fabry:23467435 | A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations. | [
"A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological evaluation of the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 28-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"c.182_183ins(GA) mutation of the GLA gene",
"novel frameshift mutation in the GLA gene"
] | [
"diffuse bluish-red maculopapules in the lower trunk and genital regions",
"dispersed skin lesions",
"hypohidrosis"
] | null | [
"Asian"
] | null | [
"no family history",
"no other complaints or symptoms",
"did not show any activity of the α-galactosidase A enzyme",
"no particular abnormal finding with regard to the evaluation of non-cutaneous manifestations"
] |
fabry:23430889 | Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing. | [
"Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry disease include cardiac, gastrointestinal, renal, and neuropathi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"end-stage renal disease",
"symptomatic Fabry disease",
"Fabry disease"
] | [
"X-linked",
"heterozygotes",
"de novo GLA mutation"
] | [
"multi-systemic manifestations",
"cardiac, gastrointestinal, renal",
"neuropathic complications",
"Renal dysfunction",
"graft failure"
] | [
"donated a kidney to her sister",
"transplant recipient",
"relisted for transplant",
"kidney transplant"
] | null | [
"deficiency of the alpha-galactosidase A enzyme"
] | null |
fabry:23410685 | Cerebral hemorrhage in a paucisymptomatic young patient with Fabry disease. | [
"Fabry disease is an inborn error of glycosphingolipid catabolism caused by deficient activity of the lysosomal exoglycohydrolase α-galactosidase A. It has an X-linked inheritance and occurs in all ethnic groups, with an incidence of 1 in 40,000 in the general population. The incidence of cerebrovascular accidents ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"inborn error of glycosphingolipid catabolism",
"X-linked inheritance"
] | [
"cerebrovascular accidents",
"hypertension",
"cardiac disease",
"renal disease",
"stroke",
"paucisymptomatic",
"hemorrhagic stroke"
] | [
"treated with enzyme replacement therapy"
] | null | null | null |
fabry:23408107 | Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up. | [
"The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehle... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n presence of supernumerary teeth\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gardner syndrome",
"Anderson-Fabry disease",
"Ellis-van Creveld syndrome",
"Ehlers-Danlos syndrome",
"incontinentia pigmenti",
"Tricho-rhino-phalangeal syndrome"
] | null | [
"presence of supernumerary teeth",
"hyperdontia",
"having teeth in addition to the regular number of teeth",
"multiple supernumerary teeth",
"nonsyndromic multiple supernumerary teeth",
"bilateral supernumerary teeth"
] | null | null | null | [
"non-syndrome"
] |
fabry:23375284 | Renal transplantation between siblings with unrecognized Fabry disease. | [
"Fabry disease is an X-linked lysosomal storage disease caused by deficiency of the lysosomal hydrolase, α-galactosidase A (α-Gal A). We report a case of a renal transplant recipient with unrecognized Fabry disease who received the allograft from a sibling donor with unrecognized Fabry disease. The recipient began ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"unrecognized Fabry disease",
"Fabry disease of the renal variant phenotype"
] | [
"X-linked"
] | [
"improvement of the renal function"
] | [
"renal transplant recipient",
"received the allograft",
"transplantation",
"Enzyme replacement therapy (ERT)",
"recipient",
"initiation of ERT"
] | null | [
"deficiency of the lysosomal hydrolase, α-galactosidase A (α-Gal A)",
"gradual increase of the serum creatinine",
"mild proteinuria",
"reduced circulating levels of α-Gal A",
"elevated urinary levels of globotriaosylceramide",
"slight decrease of serum creatinine",
"mild proteinuria persisted"
] | null |
fabry:23307880 | Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine. | [
"Previous reports of Fabry disease screening in dialysis patients indicate that α-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required. Elevated plasma globotriaosylsphingosine is reported to be a hallmark o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Previous reports of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease screening\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"p.Y173X"
] | null | [
"dialysis",
"genetic testing",
"Genetic testing",
"genetic counseling",
"enzyme replacement therapy",
"genetic counseling and testing"
] | [
"Niigata Prefecture"
] | [
"α-galactosidase A activity",
"Elevated plasma globotriaosylsphingosine",
"globotriaosylsphingosine",
"low level of plasma α-galactosidase A activity (≤4.0 nmol/h per milliliter)",
"detectable globotriaosylsphingosine levels",
"Plasma globotriaosylsphingosine"
] | null |
fabry:23305247 | The coincidence of IgA nephropathy and Fabry disease. | [
"IgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD).",
"A 26 year-old man underwent a renal biopsy in February 2001. Histopathology showed very advanced IgAN and vascular chang... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n IgA nephropathy (IgAN)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"IgA nephropathy (IgAN)",
"glomerulonephritis",
"unusual coincidence of IgAN and Fabry disease (FD)",
"FD",
"FD",
"IgAN",
"combination of IgAN",
"FD",
"FD"
] | null | [
"vascular changes",
"hypertension",
"progressive renal insufficiency",
"organ damages",
"hypertrophic cardiomyopathy",
"neuropathic pain",
"febrile crisis",
"myocardial hypertrophy has stabilized",
"other symptoms have disappeared",
"long-term hematuria",
"good renal function"
] | [
"hemodialysis",
"Enzyme replacement therapy",
"kidney transplantation",
"enzyme replacement therapy",
"Enzyme replacement therapy",
"causal treatment"
] | null | [
"Low activity of alpha-galactosidase A in the patient's plasma and leukocytes",
"proteinuria (2.6 g/day) appeared",
"decreased alpha-galactosidase A activity in plasma and leukocytes"
] | [
"No further progression of the disease has been noted"
] |
fabry:23288806 | Development of hemangioma in a tongue harboring long-standing angiokeratoma circumscriptum. | [
"Angiokeratoma is a very rare vascular lesion of the papillary dermis. It is characterized by vascular ectasia with overlying epidermal hyperkeratosis. The systemic form of angiokeratoma is associated with Fabry disease and fucosidosis. There are several localized forms. Tongue involvement is uncommon. Hemangiomas ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Angiokeratoma",
"systemic",
"angiokeratoma",
"Fabry disease",
"fucosidosis",
"lymphangioma circumscriptum",
"lingual hemangioma"
] | null | [
"vascular lesion of the papillary dermis",
"vascular ectasia",
"overlying epidermal hyperkeratosis",
"Tongue involvement",
"expansion of vascular spaces in vascular malformations",
"Lingual hemangiomas",
"cosmetic deformities",
"recurrent hemorrhage",
"functional problems with speaking, mastication,... | null | null | null | [
"indolent"
] |
fabry:23272855 | Outcome of septal myectomy in patients with Fabry's disease. | [
"Fabry's disease has cardiac manifestations that may mimic hypertrophic cardiomyopathy, including left ventricular outflow tract (LVOT) obstruction. It is important to distinguish hypertrophic cardiomyopathy from Fabry's disease, which can be treated with enzyme replacement therapy (ERT). However, after adequate ER... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"hypertrophic cardiomyopathy",
"Fabry's disease",
"Fabry's disease"
] | null | [
"cardiac manifestations",
"hypertrophic cardiomyopathy",
"left ventricular outflow tract (LVOT) obstruction",
"LVOT obstruction"
] | [
"enzyme replacement therapy (ERT)",
"adequate ERT",
"septal myectomy",
"extended septal myectomy"
] | null | null | [
"no resolution of cardiac symptoms"
] |
fabry:23210910 | Mutation identification of Fabry disease in families with other lysosomal storage disorders. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder (LSD)",
"FD",
"LSDs",
"Fabry"
] | [
"X-linked",
"random X-chromosome inactivation"
] | null | null | [
"Italian"
] | [
"deficiency of the enzyme α-galactosidase"
] | null |
fabry:23208084 | Possible pathogenetic relationship between Fabry disease and renal cell carcinoma. | [
"The occurrence of renal cell carcinoma (RCC) in Fabry disease (FD) is a rare event. We report a deep ultrastructural study of RCC in a patient with a previous histological diagnosis of FD. In order to highlight analogies and differences between the two histological samples, we used the nephrectomy specimen as a 'r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The occurrence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal cell carcinoma (RCC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"renal cell carcinoma (RCC)",
"Fabry disease (FD)",
"RCC",
"FD",
"FD"
] | [
"expression of CD74",
"Von Hippel-Lindau/hypoxia-inducible factor 1α pathway"
] | [
"damage",
"tumorigenesis"
] | null | null | [
"macrophage migration inhibitory factor"
] | null |
fabry:23190516 | Alpha-galactosidase A activity levels in Turkish male hemodialysis patients. | [
"Fabry disease is an X-linked lysosomal storage disorder due to deficient activity of alpha-galactosidase A (α-Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of α-Gal A activity and to determine the prevalence of Fabry disease in a Turkish male hemodialysis pop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"Fabry disease",
"diabetes mellitus type 2"
] | [
"X-linked"
] | [
"renal insufficiency"
] | [
"hemodialysis",
"hemodialysis",
"hemodialysis",
"hemodialysis"
] | [
"Turkish",
"Turkish"
] | [
"deficient activity of alpha-galactosidase A (α-Gal A)",
"level of α-Gal A activity",
"activity of plasma α-Gal A was measured",
"low α-Gal A activity",
"creatinine, uric acid, urea, white blood cell (WBC), and high sensitivity (hs)CRP",
"α-Gal A activity",
"Plasma α-Gal A activity",
"was 7.88 ± 5.18 ... | [
"No influence of creatinine, uric acid, WBC, or hsCRP"
] |
fabry:23178434 | Delayed diagnosis of Fabry disease presenting as myocardial ischaemia. | [
"ERRATUM: Hellenic J Cardiol. 2012; 53: 77-79. At the request of the authors, the name of the third author of this Case Report has been changed from Bruno Tuttolomondo to Antonino Tuttolomondo."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">ERRATUM: Hellenic J Cardiol. 2012; 53: 77-79. At the request of the authors, the name of the third author of this Case Report has been changed from Bruno Tuttolomondo to Antonino Tuttolomondo.</div>"
] | null | null | null | null | null | null | null |
fabry:23146289 | No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene. | [
"Fabry disease is an X-linked lysosomal disorder resulting from mutations in the α-galactosidase A (GLA) gene. Recent reports described that the E66Q mutation of GLA is not a disease-causing mutation. However, no pathological study was reported. We carried out pathological studies using a cardiac biopsy specimen fr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal disorder",
"gout",
"gouty nephropathy",
"Fabry disease",
"Fabry disease",
"end-stage renal failure"
] | [
"X-linked",
"mutations in the α-galactosidase A (GLA) gene",
"E66Q mutation of GLA",
"-causing mutation",
"E66Q mutation",
"the E66Q mutation in the GLA gene",
"E66Q mutation reduced enzyme activity",
"E66Q mutation of the GLA gene",
"functional polymorphism"
] | [
"end-stage renal failure",
"cardiomegaly",
"characteristic pathological findings of Fabry disease"
] | [
"hemodialysis"
] | null | [
"GLA activity in leukocytes was 36.2% of the average of normal controls"
] | [
"no characteristic findings of Fabry disease",
"no positive cells"
] |
fabry:23114679 | Fabry disease with atypical neurological presentation: report of a case. | [
"Fabry disease (FD) is a rare, X-linked lysosomal storage disorder with multiorgan involvement. FD is caused by a partial or total deficit of α-galactosidase A enzyme, which is responsible for the accumulation of glycosphingolipids in a variety of cell types. Neurological complications include central nervous syste... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD"
] | [
"rare, X-linked"
] | [
"multiorgan involvement",
"Neurological complications",
"central nervous system involvement with cerebrovascular disease",
"peripheral neuropathy",
"autonomic dysfunction",
"atypical neurological presentation of FD",
"48-hour consciousness alteration with amnesia",
"long-lasting episode of transient g... | null | null | [
"partial or total deficit of α-galactosidase A enzyme"
] | null |
fabry:24475416 | A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation. | [
"Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA).",
"A 46 year-old man with progressive kidney disease showed on kidney biopsy electron microscopic evidence of Fabry disease. The patient had... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"progressive kidney disease",
"unusual renal variant of Fabry disease"
] | [
"X-linked recessive inborn error of glycosphingolipid metabolism",
"new GAL A gene mutation (C174G-exon 3)"
] | null | [
"three years of enzyme replacement therapy (agalsidase beta) treatment",
"enzyme replacement therapy"
] | null | [
"deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA)",
"residual α-GalA activity"
] | [
"no systemic manifestations of Fabry disease",
"demonstrable clearance of intracellular inclusions"
] |
fabry:22998007 | Electrophysiological findings in Fabry cardiomyopathy: mapping the maze of risk stratification. | [
"We report a case of Anderson-Fabry disease in a young man presenting with cardiac hypertrophy and asymptomatic non-sustained ventricular tachycardia. The patient was referred for evaluation of implantable cardioverter/defibrillator therapy. Assessment of left ventricular ejection fraction is considered the gold st... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Anderson-Fabry disease",
"Fabry cardiomyopathy"
] | null | [
"cardiac hypertrophy",
"sudden cardiac death"
] | [
"implantable cardioverter/defibrillator therapy"
] | null | null | [
"asymptomatic non-sustained ventricular tachycardia",
"left ventricular function was preserved",
"did not reveal inducible arrhythmia or cardiac conduction abnormalities"
] |
fabry:22939960 | Diagnostic contribution of left ventricular endomyocardial biopsy in patients with clinical phenotype of hypertrophic cardiomyopathy. | [
"Hypertrophic cardiomyopathy phenotype is shared by heterogeneous entities. The purpose of the study was to evaluate the diagnostic role of left ventricular endomyocardial biopsy. One hundred fifty-one consecutive patients with unexplained left ventricular hypertrophy and normal/elevated QRS voltages or left bundle... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hypertrophic cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hypertrophic cardiomyopathy",
"myocardial storage disease",
"Fabry disease",
"glycogen-storage disease",
"myocardial infiltrative disease",
"amyloidosis",
"sarcoidosis",
"hypertrophic cardiomyopathy",
"lysosomal storage disease",
"hypertrophic cardiomyopathy",
"infiltrative/storage diseases"
] | [
"MYH7 mutation",
"MYBP",
"TNNT2",
"TPM1",
"α-galactosidase A mutation",
"PRKAG2",
"LAMP2"
] | [
"unexplained left ventricular hypertrophy",
"associated left ventricular dysfunction",
"sporadic form of left ventricular hypertrophy",
"changes consistent/compatible with hypertrophic cardiomyopathy"
] | null | null | null | [
"normal/elevated QRS voltages or left bundle-branch block"
] |
fabry:22874111 | The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review. | [
"Fabry disease (FD) is an Xlinked disorder resulting in a deficiency in α-galactosidase A (α-Gal) activity. FD is one of the causes of progressive renal dysfunction, but its diagnosis is often delayed or missed completely. We herein report the case of a 70-year-old male who had been receiving hemodialysis (HD) for ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD",
"FD",
"aspiration pneumonia",
"FD"
] | [
"Xlinked disorder",
"E66Q mutation in exon 2 of the α-Gal gene",
"E66Q mutation",
"E66Q variant"
] | [
"progressive renal dysfunction",
"died"
] | [
"receiving hemodialysis (HD) for 23 y",
"HD",
"receiving enzyme replacement therapy",
"HD"
] | [
"Japanese"
] | [
"deficiency in α-galactosidase A (α-Gal) activity",
"plasma α-Gal activity",
"low plasma α-Gal activity level"
] | null |
fabry:22849389 | Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease. | [
"Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A. Fabry disease is present in 4-5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. As enzyme replacement therapy is now more widely available, it is important to recogni... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"multi-system disease"
] | [
"X-linked",
"potentially new pathogenic variant"
] | [
"unexplained left ventricular hypertrophy",
"cryptogenic stroke",
"irreversible organ damage",
"multisystem dysfunction",
"renal impairment",
"renal impairment"
] | [
"enzyme replacement therapy",
"early treatment"
] | [
"Caucasian"
] | null | [
"no suggestive symptoms"
] |
fabry:22838175 | Fabry disease, do we think enough about this multisystemic disorder? A presentation of three cases in a Serbian family. | [
"Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues. This can cause skin and ocular lessions, progressive renal, cardiac or cerebrovascular disorders. If a person in a family has Fabry disease, othe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry Disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry Disease",
"lysosomal storage disease",
"Fabry disease"
] | [
"rare, X-chromosomal inherited"
] | [
"skin and ocular lessions",
"progressive renal, cardiac or cerebrovascular disorders",
"various rhythm and conduction abnormalities",
"irreversible organ damage"
] | [
"Enzyme replacement therapy"
] | null | null | [
"otherwise unexplained cardiac hypertrophy"
] |
fabry:22820434 | Novel alpha-galactosidase A mutation in a female with recurrent strokes. | [
"Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-cau... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"inborn error of glycosphingolipid catabolism"
] | [
"X-linked",
"disease-causing alpha-galactosidase A mutations",
"missense mutations, small deletions/insertions, splice mutations",
"large gene rearrangements",
"heterozygous single nucleotide point mutation at nucleotide c.550T>A in exon 4",
", leading to the p.Tyr184Asn amino acid substitution"
] | [
"recurrent cryptogenic strokes",
"whorled opacities of the cornea (cornea verticillata)",
"dilated tortuous conjunctival vessels"
] | null | null | [
"alpha-galactosidase A activity was 4.13 nmol/mL/h in whole blood"
] | [
"did not show other typical signs of Fabry disease",
"acroparesthesias",
"angiokeratoma"
] |
fabry:22805550 | Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy. | [
"Patients with Fabry disease (FD) develop progressive left ventricular hypertrophy (LVH). In screening studies in patients with LVH, the prevalence of FD ranges from 0 to 12%. This variability is attributable to different factors like diverging inclusion and exclusion criteria, the evaluation of selected population... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry disease (FD)",
"LVH",
"FD",
"FD",
"classical FD",
"Fabry",
"hypertrophic obstructive cardiomyopathy (HOCM)",
"LVH",
"Fabry disease",
"FD"
] | [
"genetic sequence alteration of the GLA gene",
"novel mutation, GLA p.Ala5Glu (c.44C>A)",
"GLA p.Ala143Thr (c.427G>A) mutation",
"novel sequence alteration c.639+6A>C, which appeared to be a polymorphism"
] | [
"progressive left ventricular hypertrophy (LVH)",
"LVH",
"maximal end-diastolic septal or posterior wall thickness ≥ 13 mm",
"arterial hypertension (AHT)",
"AHT",
"type of hypertrophy"
] | null | null | [
"α-Galactosidase A (aGAL A) activity was measured using a dried bloodspot test (DBS)"
] | [
"arterial hypertension or valvular pathology"
] |
fabry:22761201 | Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: case report and literature review. | [
"Fabry's disease is a rare, X linked recessive disease affecting 1 in 40 000 persons. The symptoms result from a lack of or a non-functioning enzyme α galactosidase, which leads to globotriaosylceramide accumulation in the walls of blood vessels. Mortality is generally from cardiac or renal complications and death ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"Fabry's disease"
] | [
"rare, X linked recessive disease"
] | [
"Mortality",
"cardiac or renal complications",
"death",
"subarachnoid haemorrhage",
"died",
"subarachnoid haemorrhage",
"progressively enlarging fusiform basilar aneurysm"
] | null | null | [
"lack of or a non-functioning enzyme α galactosidase"
] | null |
fabry:22731890 | Pseudoacromegalic facial features in Fabry disease. | [
"Although Fabry disease (FD) is an X-linked lysosomal storage disorder, there is a high prevalence of affected heterozygous females who show symptoms and have an increased mortality associated with the disease. FD usually progresses slowly, and death can result from stroke, heart disease or renal failure. Diagnosis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD"
] | [
"X-linked",
"heterozygous",
"deletion at exon 1 of the α-galactosidase (GLA) gene"
] | [
"death",
"stroke",
"heart disease",
"renal failure",
"angiokeratoma corporis diffusum'",
"some of the less well-recognized features of FD",
"typical 'pseudo-acromegalic' facial appearance",
"symptoms and signs of end-organ damage"
] | null | null | [
"plasma and leucocyte α-galactosidase levels were at the lower end of the normal range"
] | null |
fabry:22682330 | A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report. | [
"Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"chronic kidney disease",
"FD",
"FD",
"FD"
] | [
"hereditary metabolic disorder",
"genetic alterations",
"genetic alterations",
"four mutations in the GLA gene",
": -10C>T (g.1170C>T), c.370-77_-81del (g.7188-7192del5), c.640-16A>G (g.10115A>G), c.1000-22C>T (g.10956C>T)",
"mutations, located in promoter and intronic regulatory regions",
"intronic mut... | [
"cellular and microvascular dysfunction",
"transient ischemic attack (TIA)",
"discomfort in her hands",
"intolerance to cold and heat",
"severe angina",
"palpitations",
"peculiar findings in a renal biopsy",
"left ventricular (LV) hypertrophy",
"multisystemic involvement",
"early onset of symptoms... | null | [
"Italy",
"Taiwan"
] | [
"partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA)"
] | null |
fabry:22583102 | Cardiac surgery in patients with Fabry's disease: review of literature. | [
"Fabry's disease is a rare but important cause of structural cardiac disease that may influence cardiac surgical decision making. Herein we present a case of mitral valve repair in a patient with Fabry's disease and review the cardiac-related literature on this lysosomal storage disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"structural cardiac disease",
"Fabry's disease",
"lysosomal storage disease"
] | null | null | [
"mitral valve repair"
] | null | null | null |
fabry:22507244 | Fabry disease presenting with sudden hearing loss and otosclerosis: a case report. | [
"Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes.",
"We describe the case of a 26-year-old European Caucasian man ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"multiple-system disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"otosclerosis",
"Fabry disease"
] | [
"X-linked"
] | [
"wide spectrum of physical signs and symptoms",
"predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes",
"episodic sudden unilateral hearing loss",
"otosclerosis",
"partial and transient beneficial effect",
"sudden hearing loss",
"typical Fabry disease inner-... | [
"glucocorticoids, pentoxifylline, hyperbaric oxygen",
"fluoride",
"replacement therapy"
] | [
"European",
"Caucasian"
] | null | [
"not related to Fabry disease"
] |
fabry:22472932 | [A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease]. | [
"Fabry disease is an X-linked hereditary metabolic storage disorder, due to the deficiency in lysosomal alpha-galactosidase A, with the consequent glycosphingolipids accumulation, primarily globotriaosylceramide, at cellular level. Multiorganic involvement occurs progressively, leading to severe manifestations and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"metabolic storage disorder",
"Fabry disease"
] | [
"X-linked hereditary"
] | [
"Multiorganic involvement",
"severe manifestations",
"premature mortality",
"inespecific symptoms that lasted for years",
"acroparesthesias",
"diffuse hand pain",
"autolimited flares of high fever",
"general muscular weakness",
"remarkable purplish-red rash of slightly raised angiectases in the lowe... | null | null | [
"deficiency in lysosomal alpha-galactosidase A"
] | [
"Despite denying cutaneous findings",
"no diagnosis"
] |
fabry:22404900 | Successful salvage therapy with Daptomycin for osteomyelitis caused by methicillin-resistant Staphylococcus aureus in a renal transplant recipient with Fabry-Anderson disease. | [
"Daptomycin is licensed in adults for the management of Staphylococcus aureus methicillin-resistant infections, including bone and skin complicated infections. We describe for the first time its use in a renal transplant recipient for Fabry-Anderson Disease with right heel osteomyelitis. The patient was unresponsiv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Daptomycin\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"Staphylococcus aureus methicillin-resistant infections",
"bone and skin complicated infections",
"Fabry-Anderson Disease",
"right heel osteomyelitis"
] | null | null | [
"Daptomycin",
"renal transplant recipient",
"third-line Daptomycin monotherapy at 4 mg/Kg/qd for 4 weeks",
"Local debridement",
"advance of each line of treatment"
] | null | null | [
"unresponsive to first-line Teicoplanin and second-line Tigecycline"
] |
fabry:22383317 | Avascular necrosis of bilateral femoral heads in a patient with Fabry's disease. | [
"The underlying cause of avascular necrosis (AVN) of the femoral head is often not apparent. We report the case of a 26 year old builder with a four month history of bilateral hip pain, and a diagnosis of bilateral femoral head avascular necrosis. Fabry's disease was identified as the probable cause. Since 2001, en... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The underlying cause of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis (AVN) of the femoral head\n <span style=\"font-size: 0.8em; fon... | [
"avascular necrosis (AVN) of the femoral head",
"bilateral femoral head avascular necrosis",
"Fabry's disease",
"AVN"
] | null | [
"four month history of bilateral hip pain"
] | [
"enzyme replacement therapy for Fabry's disease"
] | null | null | null |
fabry:22378313 | Phenotype and genotype characterization and twin association in patients with Anderson-Fabry cardiomyopathy. | [
"Anderson-Fabry disease (FD), an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-Gal A) activity, is associated with cardiac manifestations including arrhythmias, valvular abnormalities, and cardiomyopathy. Early initiation of enzyme replacement therapy (ERT) may have th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Anderson-Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"cardiomyopathy",
"FD",
"FD"
] | [
"X-linked recessive",
"point mutations in exon 5 of the GLA gene"
] | [
"cardiac manifestations",
"arrhythmias",
"valvular abnormalities",
"cardiomyopathy",
"cardiomyopathy",
"other symptoms related to FD",
"severe left ventricular (LV) hypertrophy",
"typical symptoms of FD",
"angiokeratomas",
"neurological, renal, gastrointestinal, and ocular involvement",
"LV hype... | [
"Early initiation of enzyme replacement therapy (ERT)",
"ERT (agalsidase-alfa) was administered every other week as a 0.2 mg/kg intravenous infusion over 40 min"
] | null | [
"deficiency of α-galactosidase A (α-Gal A) activity",
"measuring the α-Gal A activity in plasma",
"deficiency of α-Gal A activity"
] | null |
fabry:22359912 | [Anderson-Fabry disease and renal transplantation]. | [
"Anderson-Fabry disease is a rare disease associated with progressive accumulation of globotriaosylceramide in visceral organs and vascular endothelium. The disease primarily affects male patients. It has long been considered that females are asymptomatic carriers of Anderson-Fabry disease. However, recent results ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"unrecognized Anderson-Fabry disease"
] | null | null | [
"received allograft from deceased donor",
"allograft"
] | null | null | [
"asymptomatic"
] |
fabry:24028873 | Fabry disease presenting with multiple hemorrhagic cerebral infarction. A case report. | [
"We describe a 57-year-old woman, a heterozygote for Fabry disease who had multiple hemorrhagic cerebral infarctions. Her clinical course and radiological findings suggested cardiogenic cerebral embolus, but distinction from multiple cerebral infarction associated with Fabry disease seemed necessary. Our present ca... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 57-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"associated with Fabry disease",
"Fabry disease"
] | [
"heterozygote for Fabry disease"
] | [
"multiple hemorrhagic cerebral infarctions",
"cardiogenic cerebral embolus",
"multiple cerebral infarction",
"stroke"
] | null | null | null | null |
fabry:22338844 | Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients. | [
"AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.",
"Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.",
"Case 1. (19 y. male patient) Mutation analysis was done f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">AIM was to detect the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations of alpha-galactosidase A gene\n <span style=\"font-size: 0.8em; font-weigh... | [
"Fabry",
"Fabry"
] | [
"mutations of alpha-galactosidase A gene",
"missence mutation has been identified in the 5th exon",
"the aspartic acid at codon 266 has been substituted by a tyrosine (notation D266Y) due to a G-T transversion at position 10287 of the alpha GAL-A gene",
"GAL-A mutation has been proven to be R220X mutation in ... | null | null | [
"Hungarian"
] | null | null |
fabry:22336178 | A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy. | [
"Hypertrophic cardiomyopathy (HCM) is genetically heterogeneous, and largely caused by mutations in genes encoding sarcomere proteins. However, GLA mutations causing Fabry disease, an X-linked lysosomal storage disorder, may also present with isolated HCM. As HCM genetic testing panels are increasingly being used c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hypertrophic cardiomyopathy (HCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Hypertrophic cardiomyopathy (HCM)",
"Fabry disease",
"lysosomal storage disorder",
"isolated HCM",
"isolated hypertrophic cardiomyopathy"
] | [
"mutations in genes encoding sarcomere proteins",
"GLA mutations",
"X-linked",
"maternally inherited p.W24R variant in GLA"
] | [
"isolated HCM"
] | null | null | null | [
"Attempts to",
", gave inconclusive results",
"is unlikely to be pathogenic"
] |
fabry:22331121 | Fabry disease - importance of screening in cornea verticillata: case report. | [
"Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In late stages, kidney, heart and brain can be involved. This r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"disease of glycosphingolipid (GL) metabolism",
"Fabry disease"
] | [
"X-linked"
] | [
"affect multiple organ systems",
"episodes of severe pain in the extremities",
"cornea verticillata",
"skin lesions",
"kidney, heart and brain",
"cornea verticillata",
"pain in the lower limb extremities"
] | null | null | null | null |
fabry:22307442 | A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency. | [
"Fabry disease is an X-linked lysosomal disease caused by mutations of the alpha-galactosidase A (GLA) gene at chromosome subband Xq22.1. To date, more than 600 genetic mutations have been identified to determine the nature and frequency of the molecular lesions causing the classical and milder variant phenotypes a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal disease",
"Fabry"
] | [
"X-linked",
"mutations of the alpha-galactosidase A (GLA) gene at chromosome subband Xq22.1",
"GLA gene",
"presence of a new mutation, i.e., a small deletion (c.452delA) on exon 3",
"G6PD gene",
"presence of 2 mutations, p.V68M (G6PD Asahi, G6PD A+) and p.N126D (G6PD A+) on exon 3 and exon 4, respectively... | null | null | null | [
"alpha-galactosidase A defect",
"glucose-6-phosphate dehydrogenase (G6PD) deficiency"
] | null |
fabry:22275748 | Delayed diagnosis of Fabry disease presenting as myocardial ischaemia. | [
"Cardiovascular complications due to the accumulation of globotriaosylceramide in cardiac cells occur in almost all patients affected by Anderson-Fabry disease. Cardiac manifestations include left ventricular hypertrophy, mitral regurgitation, conduction disturbances and myocardial ischaemia. We report a case of Fa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiovascular complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease",
"Fabry's disease"
] | null | [
"Cardiovascular complications",
"Cardiac manifestations",
"left ventricular hypertrophy",
"mitral regurgitation",
"conduction disturbances",
"myocardial ischaemia",
"early cardiac symptoms"
] | null | null | null | null |
fabry:22260214 | A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease. | [
"Fabry disease is a rare X-linked recessive glycosphingolipid storage disease that is caused by a deficiency of the lysosomal α-galactosidase A (GLA) enzyme, encoded by the GLA gene. This deficiency leads to the accumulation of glycosphingolipids throughout the body, which, in turn, causes multisystem diseases asso... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"glycosphingolipid storage disease",
"multisystem diseases",
"Fabry disease",
"renal variant of Fabry disease"
] | [
"rare X-linked recessive",
"novel small insertion mutation in the GLA gene"
] | [
"renal, cardiovascular, and cerebrovascular complications"
] | null | null | [
"deficiency of the lysosomal α-galactosidase A (GLA) enzyme",
"GLA gene",
"deficiency"
] | null |
fabry:22251813 | Improved hearing with cochlear implantation in Fabry's disease. | [
"To describe our center's experience with cochlear implantation in patients suffering from Fabry's disease, an inherited mutation resulting in an alpha-galactosidase A enzyme deficiency.",
"Case report of two patients aged 49 and 59 at implant, with genetically confirmed Fabry's disease and progressive hearing lo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe our center's experience with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cochlear implantation\n <span style=\"font-size: 0.8em; font-weig... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"inherited mutation resulting in"
] | [
"progressive hearing loss",
"hearing discrimination by 60 points on the HINT scale",
"hearing discrimination"
] | [
"cochlear implantation",
"implant",
"Surgical implantation of Clarion (Advanced Bionics) and Nucleus Freedom (Cochlear) cochlear implants",
"Cochlear implantation",
"cochlear implantation"
] | null | [
"alpha-galactosidase A enzyme deficiency"
] | null |
fabry:22118130 | [Description of a new mutation in a female patient with Fabry disease]. | [
"Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less severe manife... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease"
] | [
"mutations in the GLA gene (Xq22)",
"hemizygous males",
"previously undescribed mutation"
] | [
"systemic: neurological, cutaneous (angiokeratomas), renal, cardiovascular (left ventricular hypertrophy, valve thickening or rhythm disturbances), cochlear-vestibular",
"cerebrovascular",
"progressive damage to vital organs",
"renal failure",
"stroke",
"heart failure",
"rhythm perturbations",
"severe... | null | null | [
"proteinuria"
] | [
"no residual alpha-galactosidase A activity",
"absence of treatment"
] |
fabry:22078290 | Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. | [
"Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A, resulting in the accumulation of globotriaosylceramide. Many women experience symptoms, but the understanding of placental and fetal aspects of the disease is limited. We report the pregnancy outcome in and placental ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"placental pathology",
"Fabry disease",
"Fabry disease"
] | [
"X-linked"
] | [
"more extensive placental involvement"
] | [
"pregnant",
"enzyme replacement therapy",
"continued therapy throughout her pregnancy",
"At 38 weeks' gestation",
"enzyme replacement therapy"
] | null | [
"deficiency of α-galactosidase A"
] | null |
fabry:22058028 | Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin. | [
"We present the case of a 54-year-old man with multicystic kidney and concomitant Anderson-Fabry disease. He was referred to our hospital with multiple renal and hepatic cysts, without apparent family history of autosomal dominant polycystic kidney disease. His clinical history suggested Anderson-Fabry disease, so ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 54-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"concomitant Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease with concomitant multicystic kidney"
] | null | [
"multicystic kidney",
"multiple renal and hepatic cysts"
] | null | null | [
"alpha-galactosidase activity in his serum was low"
] | [
"without apparent family history of autosomal dominant polycystic kidney disease"
] |
fabry:22049975 | Interdisciplinary approach towards female patients with Fabry disease. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs.",
"Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female pati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD"
] | [
"rare X-linked",
"X-chromosomal-linked"
] | [
"typical organ involvement",
"organ involvement"
] | null | null | null | null |
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