{"orpha":70567,"name":"Cholangiocarcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bile duct cancer","CCA"],"definition":"Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC) originating in the epithelium of the biliary tree, either intra or extra hepatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70567/","orphanet_url":"https://www.orpha.net/en/disease/detail/70567","names":{"fr":{"name":"Cholangiocarcinome","synonyms":["CCA","Cancer des voies biliaires"],"definition":"Le cholangiocarcinome (CCA) est un cancer des voies biliaires (CVB) dérivé de l'épithélium de l'arbre biliaire intra- ou extra-hépatique."},"de":{"name":"Cholangiokarzinom","synonyms":["CCA","Gallengangkarzinom"],"definition":"Das Cholangiokarzinom (CCA) ist ein primärer Tumor der extra- und intrahepatischen Gallengänge."},"es":{"name":"Colangiocarcinoma","synonyms":["CCA","Cáncer de conducto biliar","Cáncer de las vías biliares"],"definition":"El colangiocarcinoma (CCA) es un tumor del conducto biliar (BTC) que se origina en el epitelio del árbol biliar, ya sea intra o extra hepático."},"it":{"name":"Colangiocarcinoma","synonyms":["CCA","Cancro dei dotti biliari"],"definition":"Il colangiocarcinoma (CCA) è un cancro del tratto biliare (BTC) che insorge nell'epitelio dell'albero biliare, sia intra- che extraepatico."},"nl":{"name":"Cholangiocarcinoom","synonyms":["CCA","Galwegkanker"],"definition":"Cholangiocarcinoom (CCA) is een galwegkanker (BTC, zie deze term) die ontstaat in het epitheel van de galboom, intrahepatisch of extrahepatisch."},"pt":{"name":"Colangiocarcinoma","synonyms":["Cancro das vias biliares"]},"pl":{"name":"Rak dróg żółciowych","synonyms":["CCA","Rak dróg żółciowych"]},"cs":{"name":"Cholangiokarcinom","synonyms":["CCA","Karcinom žlučových cest"]},"uk":{"name":"Холангіокарцинома","synonyms":["Рак жовчних проток","CCA"],"definition":"Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic."},"zh":{"name":"胆管癌","synonyms":["胆管癌"]},"tr":{"name":"Kolanjiyokarsinom","synonyms":["CCA","Safra kanalı kanseri"]}},"xrefs":[{"source":"OMIM","code":"615619","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C22.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"C24.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"C24.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C24.9","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C12.10","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"2110597275"},{"source":"MONDO","code":"0019087","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206698","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9304","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008593","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":56044,"name":"Carcinoma of gallbladder and extrahepatic biliary tract","classifications":[183,202]},{"orpha":424936,"name":"Carcinoma of liver and intrahepatic biliary tract","classifications":[183,202]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"BRCA1","name":"BRCA1 DNA repair associated","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"32576609[PMID]","hgnc":"1100","ensembl":"ENSG00000012048","omim":"113705","loci":["17q21.31"]},{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"32576609[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]},{"symbol":"PTPN3","name":"protein tyrosine phosphatase non-receptor type 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24503127[PMID]","hgnc":"9655","ensembl":"ENSG00000070159","omim":"176877","loci":["9q31.3"]},{"symbol":"ROS1","name":"ROS proto-oncogene 1, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21253578[PMID]","hgnc":"10261","ensembl":"ENSG00000047936","omim":"165020","loci":["6q22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Worldwide","status":"Validated","source":"[EXPERT]_emedicine 2011[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"15765398[PMID]_19245868[PMID]_24140396[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":">1 / 1000","value":113.0,"area":"Thailand","status":"Validated","source":"18408464[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Japan","status":"Not yet validated","source":"emedicine 2011[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Australia","status":"Validated","source":"15192785[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Not yet validated","source":"emedicine 2011[OTHER]_22895392[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2004[OTHER]_22173164[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011985","label":"Acholic stools","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100574","label":"Biliary tract neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null}]}}