{"orpha":79305,"name":"Progressive familial intrahepatic cholestasis type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PFIC3"],"definition":"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79305/","orphanet_url":"https://www.orpha.net/en/disease/detail/79305","names":{"fr":{"name":"Cholestase intrahépatique familiale progressive type 3","synonyms":["PFIC3"],"definition":"La cholestase intrahépatique progressive familiale de type 3 (PFIC3), un type de cholestase intrahépatique progressive familiale (PFIC), est une maladie héréditaire de la formation de la bile d'origine hépatocellulaire. L'âge de début est variable, depuis la petite enfance jusque chez le jeune adulte."},"de":{"name":"Cholestase, intrahepatische progressive, familiäre, Typ 3","definition":"Die Progressive familiäre intrahepatische Cholestase Typ 3 (PFIC3), eine Form der Progressiven familiären intrahepatischen Cholestase (PFIC; s. dort), ist eine spät beginnende hereditäre Störung der Gallebildung mit Ursprung in den Hepatozyten. Die Krankheitssymptome beginnen in der Zeit zwischen dem Kleinkind- und frühen Erwachsenenalter."},"es":{"name":"Colestasis intrahepática familiar progresiva tipo 3","definition":"La colestasis intrahepática familiar progresiva tipo 3 (CIFP3), un tipo de colestasis intrahepática familiar progresiva (CIFP), es un trastorno hereditario de inicio tardía de formación de bilis de origen hepatocelular. Puede debutar desde la infancia hasta la edad adulta temprana."},"it":{"name":"Colestasi intraepatica familiare progressiva, tipo 3","synonyms":["PFIC3"]},"nl":{"name":"Progressieve familiale intrahepatische cholestase type 3","synonyms":["PFIC3"],"definition":"Progressieve familiale intrahepatische cholestase type 3 (PFIC3), een type van progressieve familiale intrahepatische cholestase (PFIC), is een laat optredende, erfelijke aandoening van galvorming met hepatocellulaire oorsprong. Aanvang van de ziekte kan optreden vanaf de zuigelingentijd tot de jonge volwassenheid."},"pt":{"name":"Colestase intra-hepática progressiva familiar tipo 3","definition":"A colestase intra-hepática familiar progressiva tipo 3 (PFIC3), um tipo de colestase intra-hepática familiar progressiva (PFIC, ver este termo), é uma doença hereditária, de início tardio, da formação de bílis, tendo origem hepatocelular. O início pode ocorrer desde a infância até à idade adulta jovem."},"pl":{"name":"Postępująca rodzinna wewnątrzwątrobowa cholestaza typu 3","synonyms":["PFIC3"]},"cs":{"name":"Progresivní familiární intrahepatální cholestáza, typ 3","synonyms":["PFIC3"]},"uk":{"name":"Прогресуючий сімейний внутрішньопечінковий холестаз, тип 3","synonyms":["PFIC3"],"definition":"Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood."},"zh":{"name":"进行性家族性肝内胆汁淤积3型","synonyms":["PFIC3"]},"tr":{"name":"İlerleyici ailesel intrahepatik kolestaz tip 3","synonyms":["PFIC3"]}},"xrefs":[{"source":"OMIM","code":"602347","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":"1276600959"},{"source":"MONDO","code":"0011214","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865643","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1289","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":"ABCB4","name":"ATP binding cassette subfamily B member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17726488[PMID]_21119540[PMID]","hgnc":"45","ensembl":"ENSG00000005471","omim":"171060","loci":["7q21.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"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}