{"orpha":84,"name":"Fanconi anemia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fanconi pancytopenia"],"definition":"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-84/","orphanet_url":"https://www.orpha.net/en/disease/detail/84","names":{"fr":{"name":"Maladie de Fanconi","synonyms":["Anémie de Fanconi","Pancytopénie de Fanconi"],"definition":"Maladie génétique rare, multisystémique, caractérisée par une insuffisance médullaire progressive associée à des malformations congénitales et un risque élevé d'hémopathies myéloïdes (leucémies myéloblastiques, syndromes myélodysplasiques) et de tumeurs solides."},"de":{"name":"Fanconi-Anämie","synonyms":["Fanconi-Panzytopenie"],"definition":"Eine seltene genetische Multisystemstörung, die durch eine fortschreitende Panzytopenie mit Knochenmarkversagen, variable angeborene Fehlbildungen und eine Prädisposition für die Entwicklung hämatologischer oder solider Tumore gekennzeichnet ist."},"es":{"name":"Anemia de Fanconi","synonyms":["Pancitopenia de Fanconi"],"definition":"Es un trastorno multisistémico de base genética y poco frecuente caracterizado por pancitopenia progresiva con insuficiencia medular, malformaciones congénitas variables y predisposición al desarrollo de tumores hematológicos o sólidos."},"it":{"name":"Anemia di Fanconi","synonyms":["Pancitopenia di Fanconi"],"definition":"L'anemia di Fanconi (FA) è una malattia genetica multisistemica rara, caratterizzata da pancitopenia progressiva con insufficienza del midollo osseo, malformazioni congenite variabili e predisposizione ai tumori ematologici o solidi."},"nl":{"name":"Fanconi-anemie","synonyms":["Fanconi-pancytopenie"],"definition":"Een zeldzame, genetische multisystemische aandoening, gekarakteriseerd door progressieve pancytopenie met beenmergfalen, variabele congenitale malformaties, en predispositie voor ontwikkeling van hematologische of solide tumoren."},"pt":{"name":"Anemia de Fanconi","synonyms":["Pancitopenia de Fanconi"],"definition":"A anemia de Fanconi (FA) é uma doença hereditária da reparação do ADN caracterizada por pancitopenia progressiva com falência da medula óssea, malformações congénitas variáveis e predisposição para tumores hematológicos ou sólidos."},"pl":{"name":"Anemia Fanconiego","synonyms":["Pancytopenia Fanconiego"]},"cs":{"name":"Fanconiho anémie","synonyms":["Fanconiho pancytopenie"]},"uk":{"name":"Анемія Фанконі","synonyms":["Панцитопенія Фанконі"],"definition":"A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors."},"zh":{"name":"范科尼贫血","synonyms":["范科尼全血细胞减少"]},"tr":{"name":"Fanconi anemisi","synonyms":["Fanconi pansitopeni"]}},"xrefs":[{"source":"OMIM","code":"227645","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"227646","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"227650","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300514","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600901","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603467","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609053","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609054","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610832","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613951","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614082","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614083","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615272","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617243","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617244","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617247","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617883","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621258","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1500851497"},{"source":"MONDO","code":"0019391","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005199","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015625","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6425","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10055206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare 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000 000","value":0.62,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Israel","status":"Validated","source":"20435624[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Specific population","status":"Validated","source":"11344308[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Specific population","status":"Validated","source":"15522956[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.111,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent 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(29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Occasional 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