{"orpha":79306,"name":"Progressive familial intrahepatic cholestasis type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Byler disease","FIC1 deficiency","PFIC1"],"definition":"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79306/","orphanet_url":"https://www.orpha.net/en/disease/detail/79306","names":{"fr":{"name":"Cholestase intrahépatique familiale progressive type 1","synonyms":["Déficit en FIC1","Maladie de Byler","PFIC1"],"definition":"La cholestase intrahépatique progressive familiale de type 1 (PFIC1), un des trois types de cholestase intrahépatique progressive familiale identifiés (PFIC), est une maladie infantile héréditaire de la formation de la bile d'origine hépatocellulaire associée à des atteintes extrahépatiques."},"de":{"name":"Cholestase, intrahepatische progressive, familiäre, Typ 1","definition":"Die Progressive familiäre intrahepatische Cholestase Typ 1 (PFIC1), eine der drei Formen der Progressiven familiären intrahepatischen Cholestase (PFIC), ist eine infantile erbliche Störung der Gallebildung (deren Ursache in der Leberzelle liegt) mit assoziierten extrahepatischen Symptomen."},"es":{"name":"Colestasis intrahepática familiar progresiva tipo 1","definition":"La colestasis intrahepática familiar progresiva tipo 1 (CIFP1), un tipo de colestasis intrahepática familiar progresiva (CIFP), es un trastorno hereditario infantil de formación de bilis de origen hepatocelular asociado con características extrahepáticas"},"it":{"name":"Colestasi intraepatica familiare progressiva, tipo 1","synonyms":["Deficit di FIC1","Malattia di Byler","PFIC1"]},"nl":{"name":"Progressieve familiale intrahepatische cholestase type 1","synonyms":["FIC1-deficiëntie","PFIC1","Ziekte van Byler"],"definition":"Progressieve familiale intrahepatische cholestase type 1 (PFIC1), een type van progressieve familiale intrahepatische cholestase (PFIC), is een infantiele, erfelijke aandoening van galvorming met hepatocellulaire oorsprong en geassocieerd met extrahepatische kenmerken."},"pt":{"name":"Colestase intra-hepática progressiva familiar tipo 1","definition":"A colestase intra-hepática familiar progressiva tipo 1 (PFIC1), um tipo de colestase intra-hepática familiar progressiva (PFIC, ver este termo), é uma doença hereditária do lactente na formação de bilis que é hepatocelular na sua origem e associada a características extra-hepáticas."},"pl":{"name":"Postępująca rodzinna wewnątrzwątrobowa cholestaza typu 1","synonyms":["Choroba Bylera","Niedobór FIC1","PFIC1"]},"cs":{"name":"Progresivní familiární intrahepatální cholestáza, typ 1","synonyms":["Bylerova nemoc","Deficit FIC1","PFIC1"]},"uk":{"name":"Прогресуючий сімейний внутрішньопечінковий холестаз, тип 1","synonyms":["Хвороба Байлєра","Дефіцит FIC1","PFIC1"],"definition":"PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features."},"zh":{"name":"进行性家族性肝内胆汁淤积1型","synonyms":["FIC1缺乏"]},"tr":{"name":"İlerleyici ailesel intrahepatik kolestaz tip 1","synonyms":["PFIC1","Byler hastalığı","FIC1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"211600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1414850183"},{"source":"MONDO","code":"0008892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551898","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9802","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":172,"name":"Progressive familial intrahepatic cholestasis","classifications":[150,156,183,233]}],"children":[],"genes":[{"symbol":"ATP8B1","name":"ATPase phospholipid transporting 8B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301474[PMID]","hgnc":"3706","ensembl":"ENSG00000081923","omim":"602397","loci":["18q21.31"]},{"symbol":"MYO5B","name":"myosin VB","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27532546[PMID]","hgnc":"7603","ensembl":"ENSG00000167306","omim":"606540","loci":["18q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}