{"orpha":79304,"name":"Progressive familial intrahepatic cholestasis type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BSEP deficiency","PFIC2"],"definition":"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79304/","orphanet_url":"https://www.orpha.net/en/disease/detail/79304","names":{"fr":{"name":"Cholestase intrahépatique familiale progressive type 2","synonyms":["Déficit en BSEP","PFIC2"],"definition":"La cholestase intrahépatique progressive familiale de type 2 (PFIC2) est une maladie néonatale héréditaire sévère, initialement nommée syndrome de Byler, due à une anomalie de la formation de la bile d'origine hépatocellulaire."},"de":{"name":"Cholestase, intrahepatische progressive, familiäre, Typ 2","definition":"Die Progressive familiäre intrahepatische Cholestase Typ 2 (PFIC2), eine Form der Progressiven familiären intrahepatischen Cholestase (PFIC), ist eine schwere genetische Erkrankung der Neugeborenenzeit mit von den Leberzellen ausgehendem Defekt der Gallebildung. Ursprünglich wurde die PFIC2 als Byler-Krankheit beschrieben."},"es":{"name":"Colestasis intrahepática familiar progresiva tipo 2","definition":"La colestasis intrahepática familiar progresiva tipo 2 (CIFP2), un tipo de colestasis intrahepática familiar progresiva (CIFP), es un trastorno hereditario neonatal grave de formación de bilis, de origen hepatocelular y que no asocia características extrahepáticas. Inicialmente, la CIFP2 se describió con el nombre de síndrome de Byler."},"it":{"name":"Colestasi intraepatica familiare progressiva, tipo 2","synonyms":["Deficit di BSEP","PFIC2"]},"nl":{"name":"Progressieve familiale intrahepatische cholestase type 2","synonyms":["BSEP-deficiëntie","PFIC2"],"definition":"Progressieve familiale intrahepatische cholestase type 2 (PFIC2), een type van progressieve familiale intrahepatische cholestase (PFIC), is een ernstige, neonatale, erfelijke aandoening van galvorming met hepatocellulaire oorsprong en niet geassocieerd met extrahepatische kenmerken. Initieel werd PFIC2 gerapporteerd onder de naam syndroom van Byler."},"pt":{"name":"Colestase intra-hepática progressiva familiar tipo 2","definition":"A colestase intra-hepática familiar progressiva tipo 2 (PFIC2), um tipo de colestase intra-hepática familiar progressiva (PFIC, ver este termo), é uma patologia hereditária neonatal grave da formação de bílis. Trata-se de uma colestase de origem hepatocelular e não associada a características extra-hepáticas. Inicialmente, a PFIC2 foi descrita com o nome de síndrome de Byler."},"pl":{"name":"Postępująca rodzinna wewnątrzwątrobowa cholestaza typu 2","synonyms":["Niedobór BSEP","PFIC2"]},"cs":{"name":"Progresivní familiární intrahepatální cholestáza, typ 2","synonyms":["Deficit BSEP","PFIC2"]},"uk":{"name":"Прогресуючий сімейний внутрішньопечінковий холестаз, тип 2","synonyms":["Дефіцит BSEP","PFIC2"],"definition":"Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome."},"zh":{"name":"进行性家族性肝内胆汁淤积2型","synonyms":["BSEP缺乏"]},"tr":{"name":"İlerleyici ailesel intrahepatik kolestaz tip 2","synonyms":["PFIC2","BSEP eksikliği"]}},"xrefs":[{"source":"OMIM","code":"601847","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":"1168921980"},{"source":"MONDO","code":"0011156","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3489789","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1288","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":"ABCB11","name":"ATP binding cassette subfamily B member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9806540[PMID]_15791618[PMID]","hgnc":"42","ensembl":"ENSG00000073734","omim":"603201","loci":["2q31.1"]}],"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}