{"orpha":324,"name":"Fabry disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-galactosidase A deficiency","Anderson-Fabry disease","FD"],"definition":"A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324/","orphanet_url":"https://www.orpha.net/en/disease/detail/324","names":{"fr":{"name":"Maladie de Fabry","synonyms":["Déficit en alpha-galactosidase A","FD","Maladie d'Anderson-Fabry","Sphingolipidose héréditaire de Fabry","Thésaurismose lipoïdique héréditaire"],"definition":"Maladie lysosomale multisystémique rare, d'origine génétique, caractérisée par des manifestations cutanées (angiokératome), neurologiques (douleurs), rénales (protéinurie, insuffisance rénale chronique), cardiovasculaires (cardiomyopathie, arythmie), cochléo-vestibulaires et cérébrovasculaires (accidents ischémiques transitoires, accidents vasculaires cérébraux). L'expression phénotypique dépend de l'âge auquel la maladie se déclare et, chez la femme, du niveau d'inactivation de l'X."},"de":{"name":"Fabry-Syndrom","synonyms":["Alpha-Galaktosidase A-Mangel","Anderson-Fabry-Krankheit","FD","Fabry-Krankheit"],"definition":"Eine seltene lysosomale Erkrankung, die durch spezifische kutane (Angiokeratome), neurologische (Schmerzen), renale (Proteinurie, chronisches Nierenversagen), kardiovaskuläre (Kardiomyopathie, Arrhythmie), cochleovestibuläre und zerebrovaskuläre Manifestationen (transitorische ischämische Attacken, Schlaganfälle) gekennzeichnet ist. Die phänotypische Ausprägung hängt vom Alter des Ausbruchs und, bei Frauen, vom Grad der X-Inaktivierung ab."},"es":{"name":"Enfermedad de Fabry","synonyms":["Deficiencia de alfa-galactosidasa A","Enfermedad de Anderson-Fabry"],"definition":"Es una enfermedad lisosomal multisistémica poco frecuente de origen genético caracterizada por manifestaciones cutáneas específicas (angioqueratoma), neurológicas (dolor), renales (proteinuria, insuficiencia renal crónica), cardiovasculares (miocardiopatía, arritmia), cocleovestibulares y cerebrovasculares (ataques isquémicos transitorios, accidentes cerebrovasculares). La expresión fenotípica depende de la edad de aparición y, en las mujeres, del nivel de inactivación del cromosoma X."},"it":{"name":"Malattia di Fabry","synonyms":["Deficit di alfa-galattosidasi A","FD","Malattia di Anderson-Fabry"],"definition":"La malattia di Fabry (FD) è una malattia da deposito lisosomiale multisistemica, progressiva, ereditaria, caratterizzata da specifici segni neurologici, cutanei, renali, cardiovascolari, cocleo-vestibolari e cerebrovasculari."},"nl":{"name":"Ziekte van Fabry","synonyms":["Alfa-galactosidase A-deficiëntie","FD","Ziekte van Anderson-Fabry"],"definition":"Een zeldzame genetische, multisystemische lysosomale aandoening, gekenmerkt door specifieke cutane (angiokeratoom), neurologische (pijn), renale (proteïnurie, chronisch nierfalen), cardiovasculaire (cardiomyopathie, aritmie), cochleovestibulaire en cerebrovasculaire (transiënte ischemische aanval, beroerte) manifestaties. De fenotypische expressie hangt af van de aanvangsleeftijd en, bij vrouwen, de mate van X-inactivatie."},"pt":{"name":"Doença Fabry","synonyms":["Deficiência de alfa-galactosidase A","Doença Anderson-Fabry","FD"],"definition":"Doença lisossomal genética rara, multissistémica, caracterizada por manifestações cutâneas específicas (angioqueratoma), neurológicas (dor), renais (proteinúria, insuficiência renal crónica), cardiovasculares (cardiomiopatia, arritmia), cócleo-vestibulares e cerebrovasculares (acidentes isquémicos transitórios, acidentes vasculares cerebrais). A expressão fenotípica depende da idade de início e, em individuos femininos, do nível de inativação do X."},"pl":{"name":"Choroba Fabry'ego","synonyms":["Choroba Andersona i Fabry'ego","FD","Niedobór alfa-galaktozydazy A","Rogowiec naczyniowy rozlany","Rozsiane zmiany o charakterze angiokeratoma"],"definition":"Rzadka genetycznie uwarunkowana wieloukładowa choroba lizosomalna, charakteryzująca się specyficznymi objawami skórnymi (angiokeratoma), neurologicznymi (ból), nerkowymi (białkomocz, przewlekła niewydolność nerek), sercowo-naczyniowymi (kardiomiopatia, arytmia), ślimakowo-przedsionkowymi i mózgowo-naczyniowymi (przejściowe ataki niedokrwienne, udary). Ekspresja fenotypowa zależy od wieku wystąpienia choroby, a u kobiet od poziomu inaktywacji chromosomu X."},"cs":{"name":"Fabryho nemoc","synonyms":["Deficit alfa-galaktosidázy A","Andersonova-Fabryho nemoc","Angiokeratoma corporis diffusum","Anderson-Fabryho nemoc"]},"uk":{"name":"Хвороба Фабрі","synonyms":["Дефіцит альфа-галактозидази А","Хвороба Андерсона-Фабрі","Ангіокератома дифузна (Angiokeratoma corporis diffusum)","Дифузна ангіокератома","FD"],"definition":"A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation."},"zh":{"name":"法布里病","synonyms":["α-半乳糖苷酶A缺乏症"]},"tr":{"name":"Fabry hastalığı","synonyms":["FD","Yaygın anjiyokeratom","Anderson-Fabry hastalığı","Anjiyokeratoma korporis diffusum","Alfa-galaktosidaz A eksikliği"]}},"xrefs":[{"source":"OMIM","code":"301500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"66996647"},{"source":"MONDO","code":"0010526","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000795","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002986","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6400","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016016","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":217638,"name":"Lysosomal disease with restrictive cardiomyopathy","classifications":[146,156,233]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GLA","name":"galactosidase alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301469[PMID]","hgnc":"4296","ensembl":"ENSG00000102393","omim":"300644","loci":["Xq22.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":6.66,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":6.96,"area":"Australia","status":"Validated","source":"35024668[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.52,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Turkey","status":"Validated","source":"15275696[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"United Kingdom","status":"Validated","source":"11732485[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Japan","status":"Validated","source":"22790789[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.11,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.118,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-25","source":"20301469[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004343","label":"Abnormal glycosphingolipid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001014","label":"Angiokeratoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034864","label":"Decreased alpha-galactosidase A activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033595","label":"Elevated circulating globotriaosylceramide concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500008","label":"Cornea verticillata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004306","label":"Abnormality of the endocardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002571","label":"Achalasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null}]}}