{"orpha":171,"name":"Primary sclerosing cholangitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PSC"],"definition":"Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171/","orphanet_url":"https://www.orpha.net/en/disease/detail/171","names":{"fr":{"name":"Cholangite sclérosante primitive","synonyms":["PSC"],"definition":"Maladie hépatique rare, lentement progressive, caractérisée par une inflammation et une destruction des voies biliaires intra- et/ou extra-hépatiques entraînant une cholestase, une fibrose hépatique, une cirrhose du foie et, à terme, une insuffisance hépatique."},"de":{"name":"Primäre sklerosierende Cholangitis","synonyms":["PSC"],"definition":"Die primäre sklerosierende Cholangitis (PSC) ist eine seltene, langsam fortschreitende Lebererkrankung, die durch Entzündung und Zerstörung der intra- und/oder extrahepatischen Gallengänge gekennzeichnet ist und zu Cholestase, Leberfibrose, Leberzirrhose und schließlich Leberversagen führt."},"es":{"name":"Colangitis esclerosante primaria","synonyms":["PSC"],"definition":"La colangitis esclerosante primaria (CEP) es una enfermedad hepática lentamente progresiva y poco frecuente caracterizada por inflamación y destrucción de los conductos biliares intra y/o extra hepáticos que producen colestasis, fibrosis hepática, cirrosis hepática y finalmente en fallo hepático."},"it":{"name":"Colangite sclerosante primitiva","synonyms":["PSC"],"definition":"La colangite sclerosante primitiva (PSC) è una malattia epatica rara a progressione lenta, caratterizzata dall'infiammazione e dalla distruzione dei dotti biliari intra- e/o extra-epatici che causano colestasi, fibrosi e cirrosi epatica, esitando nell'insufficienza epatica."},"nl":{"name":"Primaire scleroserende cholangitis","synonyms":["PSC"],"definition":"Primaire scleroserende cholangitis (PSC) is een zeldzame, traag progressieve leverziekte die wordt gekarakteriseerd door ontsteking en vernietiging van de intra- en/of extrahepatische galwegen met cholestase, leverfibrose, levercirrose en tenslotte leverfalen tot gevolg."},"pt":{"name":"Colangite esclerosante primária"},"pl":{"name":"Pierwotne stwardniające zapalenie dróg żółciowych","synonyms":["PSC"]},"cs":{"name":"Primární sklerozující cholangitida","synonyms":["PSC"]},"uk":{"name":"Первинний склерозуючий холангіт","synonyms":["PSC"],"definition":"Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure."},"zh":{"name":"原发性硬化性胆管炎","synonyms":["PSC"]},"tr":{"name":"Primer sklerozan kolanjit","synonyms":["PSC"]}},"xrefs":[{"source":"OMIM","code":"602114","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613806","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K83.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"DB96.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"857962451"},{"source":"MONDO","code":"0013433","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0566602","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":447771,"name":"Sclerosing cholangitis","classifications":[183,233]}],"children":[],"genes":[{"symbol":"SEMA4D","name":"semaphorin 4D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33627483[PMID]","hgnc":"10732","ensembl":"ENSG00000187764","omim":"601866","loci":["9q22.2"]},{"symbol":"GPR35","name":"G protein-coupled receptor 35","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22821403[PMID]","hgnc":"4492","ensembl":"ENSG00000178623","omim":"602646","loci":["2q37.3"]},{"symbol":"MST1","name":"macrophage stimulating 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21151127[PMID]","hgnc":"7380","ensembl":"ENSG00000173531","omim":"142408","loci":["3p21.31"]},{"symbol":"TCF4","name":"transcription factor 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22821403[PMID]","hgnc":"11634","ensembl":"ENSG00000196628","omim":"602272","loci":["18q21.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"Europe","status":"Validated","source":"21351115[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.84,"area":"Europe","status":"Validated","source":"ORPHANET_9489916[PMID]_18433916[PMID]_23775876[PMID]_7890895[PMID]_20683956[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.1,"area":"Worldwide","status":"Validated","source":"22245904[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"Worldwide","status":"Validated","source":"22245904[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"United States","status":"Not yet validated","source":"14598252[PMID]_21351115[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.81,"area":"United States","status":"Not yet validated","source":"14598252[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Norway","status":"Validated","source":"9489916[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.5,"area":"Norway","status":"Validated","source":"9489916[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.22,"area":"Sweden","status":"Validated","source":"22098097[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.2,"area":"Sweden","status":"Validated","source":"20683956[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.66,"area":"United Kingdom","status":"Not yet validated","source":"18433916[PMID]_15188211[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.28,"area":"United Kingdom","status":"Not yet validated","source":"18433916[PMID]_15188211[PMID]_ ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Netherlands","status":"Validated","source":"23775876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Netherlands","status":"Validated","source":"23775876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Canada","status":"Validated","source":"17313496[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Spain","status":"Validated","source":"7890895[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Spain","status":"Validated","source":"7890895[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Singapore","status":"Validated","source":"12164967[PMID]_22245904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-10","source":"28390159[PMID]_22821403[PMID]_17062136[PMID]_27653566[PMID]_28025879[PMID]_9296539[PMID]_21151127[PMID]_21793028[PMID]_23810223[PMID]_23050548[PMID]_19224956[PMID]_17317411[PMID]_10907383[PMID]","terms":[{"hpo":"HP:0012440","label":"Abnormal biliary tract morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012700","label":"Abnormal large intestine physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030168","label":"Dilated superficial abdominal veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010638","label":"Elevated alkaline phosphatase of hepatic origin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100869","label":"Palmar telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012522","label":"Spider hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100279","label":"Ulcerative colitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040275","label":"Adenocarcinoma of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030153","label":"Cholangiocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100626","label":"Chronic hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004905","label":"Low levels of vitamin A","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003459","label":"Polyclonal elevation of IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100575","label":"Neoplasm of the gallbladder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001879","label":"Abnormality of eosinophils","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100727","label":"Histiocytosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0005429","label":"Recurrent systemic pyogenic infections","frequency":"Excluded (0%)","criteria":null}]}}