{"orpha":172,"name":"Progressive familial intrahepatic cholestasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PFIC"],"definition":"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-172/","orphanet_url":"https://www.orpha.net/en/disease/detail/172","names":{"fr":{"name":"Cholestase intrahépatique progressive familiale","synonyms":["PFIC"],"definition":"Les cholestases intrahépatiques progressives familiales (PFIC, selon le sigle anglais) constituent un groupe hétérogène de maladies autosomiques récessives rares de l'enfant affectant la sécrétion biliaire."},"de":{"name":"Cholestase, familiäre intrahepatische progressive","synonyms":["PFIC"],"definition":"Die Progressive familiäre intrahepatische Cholestase (PFIC) umfasst eine heterogene Gruppe autosomal-rezessiv vererbter Krankheiten des Kindesalters mit hepatozellulär bedingt defekter Bildung der Galle."},"es":{"name":"Colestasis intrahepática familiar progresiva","definition":"La colestasis intrahepática familiar progresiva (CIFP) se refiere a un grupo heterogéneo de trastornos autosómicos recesivos de la infancia que alteran la formación de la bilis y se presentan con colestasis de origen hepatocelular."},"it":{"name":"Colestasi progressiva familiare intraepatica","synonyms":["PFIC"]},"nl":{"name":"Progressieve familiale intrahepatische cholestase","synonyms":["PFIC"],"definition":"Een heterogene groep van autosomaal recessieve aandoeningen in de kindertijd die vorming van gal verstoren en zich presenteren met cholestase van hepatocellulaire oorsprong."},"pt":{"name":"Colestase intra-hepática progressiva familiar","synonyms":["CIPF"],"definition":"A colestase intra-hepática familiar progressiva (PFIC) refere-se a um grupo heterogéneo de patologias autossómicas recessivas da infância que perturbam a formação de bilis e apresentam-se com colestase de origem hepatocelular."},"pl":{"name":"Postępująca rodzinna cholestaza wewnątrzwątrobowa","synonyms":["PFIC"]},"cs":{"name":"Progresivní familiární intrahepatální cholestáza","synonyms":["PFIC"]},"uk":{"name":"Прогресуючий сімейний внутрішньопечінковий холестаз","synonyms":["PFIC"],"definition":"Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin."},"zh":{"name":"进行性家族性肝内胆汁淤积症","synonyms":["PFIC"]},"tr":{"name":"ilerleyici ailesel intrahepatik kolestaz","synonyms":["PFIC"]}},"xrefs":[{"source":"OMIM","code":"211600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601847","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602347","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615878","qualifier":"BTNT","icd_relation":null,"validated":false},{"source":"OMIM","code":"617049","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619484","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619662","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619849","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619868","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620010","qualifier":"BTNT","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":"E","icd_relation":"specific","validated":true,"icd11_uri":"1457142642"},{"source":"MONDO","code":"0015762","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076033","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":309816,"name":"Disorder of bilirubin metabolism and excretion","classifications":[150,156]},{"orpha":284385,"name":"Familial intrahepatic cholestasis","classifications":[156,183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[{"orpha":168583,"name":"Hereditary North American Indian childhood cirrhosis","type":"Clinical subtype"},{"orpha":480491,"name":"MYO5B-related progressive familial intrahepatic cholestasis","type":"Clinical subtype"},{"orpha":79306,"name":"Progressive familial intrahepatic cholestasis type 1","type":"Clinical subtype"},{"orpha":79304,"name":"Progressive familial intrahepatic cholestasis type 2","type":"Clinical subtype"},{"orpha":79305,"name":"Progressive familial intrahepatic cholestasis type 3","type":"Clinical subtype"},{"orpha":480483,"name":"Progressive familial intrahepatic cholestasis type 4","type":"Clinical subtype"},{"orpha":480476,"name":"Progressive familial intrahepatic cholestasis type 5","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":79304,"name":"Progressive familial intrahepatic cholestasis type 2"}},{"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"],"via":{"orpha":79305,"name":"Progressive familial intrahepatic cholestasis type 3"}},{"symbol":"NR1H4","name":"nuclear receptor subfamily 1 group H member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26888176[PMID]","hgnc":"7967","ensembl":"ENSG00000012504","omim":"603826","loci":["12q23.1"],"via":{"orpha":480476,"name":"Progressive familial intrahepatic cholestasis type 5"}},{"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"],"via":{"orpha":79306,"name":"Progressive familial intrahepatic cholestasis type 1"}},{"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"],"via":{"orpha":79306,"name":"Progressive familial intrahepatic cholestasis type 1"}},{"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"],"via":{"orpha":480491,"name":"MYO5B-related progressive familial intrahepatic cholestasis"}},{"symbol":"TJP2","name":"tight junction protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26983395[PMID]_24614073[PMID]","hgnc":"11828","ensembl":"ENSG00000119139","omim":"607709","loci":["9q21.11"],"via":{"orpha":480483,"name":"Progressive familial intrahepatic cholestasis type 4"}},{"symbol":"UTP4","name":"UTP4 small subunit processome component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12417987[PMID]","hgnc":"1983","ensembl":"ENSG00000141076","omim":"607456","loci":["16q22.1"],"via":{"orpha":168583,"name":"Hereditary North American Indian childhood cirrhosis"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}