{"orpha":186,"name":"Primary biliary cholangitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hanot syndrome","PBC","Primary biliary cirrhosis"],"definition":"A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-186/","orphanet_url":"https://www.orpha.net/en/disease/detail/186","names":{"fr":{"name":"Cholangite biliaire primitive","synonyms":["CBP","Cirrhose biliaire primitive","Syndrome de Hanot"],"definition":"Maladie hépatique cholestatique auto-immune rare caractérisée par des lésions à médiation auto-immune des petites voies biliaires intra-hépatiques entraînant une cholestase, une fibrose et éventuellement une cirrhose."},"de":{"name":"Cholangitis, primär biliäre","synonyms":["Hanot-Syndrom","PBC","Primäre biliäre Zirrhose"],"definition":"Eine seltene autoimmune cholestatische Lebererkrankung, die durch eine autoimmunvermittelte Schädigung der kleinen intrahepatischen Gallengänge gekennzeichnet ist und zu Cholestase, Fibrose und möglicher Zirrhose führt."},"es":{"name":"Colangitis biliar primaria","synonyms":["CBP","Cirrosis biliar primaria","Síndrome de Hanot"],"definition":"Es una enfermedad hepática colestásica autoinmune poco frecuente caracterizada por daño de los pequeños conductos biliares intrahepáticos de origen autoinmune que conduce a colestasis, fibrosis y posible cirrosis."},"it":{"name":"Colangite biliare primitiva","synonyms":["Sindrome di Hanot"],"definition":"La colangite biliare primitiva (CBP) è un'epatopatia colestatica autoimmune rara, caratterizzata da un danno dei piccoli dotti biliari intraepatici mediato dall'autoimmunità, che causa la colestasi, la fibrosi e, potenzialmente, la cirrosi."},"nl":{"name":"Primaire biliaire cholangitis","synonyms":["PBC","Primaire biliaire cirrose","Syndroom van Hanot"],"definition":"Een zeldzame auto-immune cholestatische aandoening van lever, gekarakteriseerd door auto-immuun gemedieerde beschadiging van kleine intrahepatische galwegen, met cholestase, fibrose, en mogelijk cirrose tot gevolg."},"pt":{"name":"Colangite biliar primária","synonyms":["Cirrose biliar primária","Síndrome Hanot"]},"pl":{"name":"Pierwotne zapalenie dróg żółciowych","synonyms":["PBC","Zespół Hanota","Pierwotna marskość żółciowa"]},"cs":{"name":"Primární biliární cirhóza","synonyms":["Hanotova cirhóza"]},"uk":{"name":"Первинний біліарний холангіт","synonyms":["Синдром Гано","PBC","Первинний біліарний цироз"],"definition":"A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis."},"zh":{"name":"原发型胆道胆管炎","synonyms":["原发性胆汁性肝硬化"]},"tr":{"name":"Primer biliyer kolanjit","synonyms":["PBC","Hanot sendromu","Primer biliyer siroz"]}},"xrefs":[{"source":"OMIM","code":"109720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613007","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613008","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614221","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K74.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DB96.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"649193479"},{"source":"MONDO","code":"0005388","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008312","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7459","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080429","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"IL12A","name":"interleukin 12A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"5969","ensembl":"ENSG00000168811","omim":"161560","loci":["3q25.33"]},{"symbol":"IL12RB1","name":"interleukin 12 receptor subunit beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"5971","ensembl":"ENSG00000096996","omim":"601604","loci":["19p13.11"]},{"symbol":"IRF5","name":"interferon regulatory factor 5","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"6120","ensembl":"ENSG00000128604","omim":"607218","loci":["7q32.1"]},{"symbol":"MMEL1","name":"membrane metalloendopeptidase like 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"14668","ensembl":"ENSG00000142606","omim":"618104","loci":["1p36.32"]},{"symbol":"POU2AF1","name":"POU class 2 homeobox associating factor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23000144[PMID]","hgnc":"9211","ensembl":"ENSG00000110777","omim":"601206","loci":["11q23.1"]},{"symbol":"SPIB","name":"Spi-B transcription factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"11242","ensembl":"ENSG00000269404","omim":"606802","loci":["19q13.33"]},{"symbol":"TNFSF15","name":"TNF superfamily member 15","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23000144[PMID]","hgnc":"11931","ensembl":"ENSG00000181634","omim":"604052","loci":["9q32"]},{"symbol":"TNPO3","name":"transportin 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"17103","ensembl":"ENSG00000064419","omim":"610032","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Unknown"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.57,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.05,"area":"Worldwide","status":"Validated","source":"[EXPERT]_22245904[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Worldwide","status":"Validated","source":"22245904[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Validated","source":"17873609[PMID]_22562114[PMID]_24387641[PMID]_17918011[PMID]_22961000[PMID]_10421645[PMID]_9279616[PMID]_20347176[PMID]_24502439[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"France","status":"Validated","source":"20347176[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Spain","status":"Validated","source":"17873609[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":19.5,"area":"Spain","status":"Validated","source":"17873609[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Iceland","status":"Validated","source":"22562114[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":38.3,"area":"Iceland","status":"Validated","source":"22562114[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Netherlands","status":"Validated","source":"24387641[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.2,"area":"Netherlands","status":"Validated","source":"24387641[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Denmark","status":"Validated","source":"17918011[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Denmark","status":"Validated","source":"17918011[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Finland","status":"Validated","source":"17918011[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"Finland","status":"Validated","source":"17918011[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"United Kingdom","status":"Validated","source":"22961000[PMID]_9279616[PMID]_10421645[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"United States","status":"Validated","source":"11113084[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.2,"area":"United States","status":"Validated","source":"11113084[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Canada","status":"Validated","source":"19821525[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":22.7,"area":"Canada","status":"Validated","source":"19821525[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.1,"area":"Australia","status":"Validated","source":"15300579[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Israel","status":"Validated","source":"16308995[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.9,"area":"China","status":"Validated","source":"20815889[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Brunei Darussalam","status":"Validated","source":"21134832[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Brunei Darussalam","status":"Validated","source":"21134832[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":36.5,"area":"Greece","status":"Validated","source":"24502439[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Greece","status":"Validated","source":"24502439[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"United Kingdom","status":"Validated","source":"10421645[PMID]_9279616[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-24","source":"26261733[PMID]_27465943[PMID]_26167070[PMID]","terms":[{"hpo":"HP:0030167","label":"Antimitochondrial antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011971","label":"Dermatographic urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002841","label":"Recurrent fungal infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002570","label":"Steatorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Very rare (<4-1%)","criteria":null}]}}