{"orpha":53035,"name":"Caroli disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53035/","orphanet_url":"https://www.orpha.net/en/disease/detail/53035","names":{"fr":{"name":"Maladie de Caroli","definition":"Maladie hépatique congénitale rare caractérisée par des dilatations kystiques non obstructives des voies biliaires intrahépatiques et, plus rarement, extra-hépatiques."},"de":{"name":"Caroli-Krankheit","definition":"Die Caroli-Krankheit (CD) ist eine seltene angeborene Lebererkrankung, die durch nicht-obstruktive zystische Erweiterungen der intrahepatischen und in seltenen Fällen der extrahepatischen Gallengänge gekennzeichnet ist."},"es":{"name":"Enfermedad de Caroli","definition":"Es una enfermedad hepática congénita poco frecuente caracterizada por dilataciones quísticas no obstructivas de los conductos biliares intrahepáticos y, ocasionalmente, extrahepáticos."},"it":{"name":"Malattia di Caroli","definition":"La malattia di Caroli (CD) è una malattia epatica rara congenita, caratterizzata da dilatazioni cistiche non ostruttive dei dotti biliari intraepatici e, raramente, extraepatici."},"nl":{"name":"Ziekte van Caroli","definition":"Ziekte van Caroli (CD) is een zeldzame, congenitale leverziekte die gekarakteriseerd wordt door niet-obstructieve cystische dilataties van de intrahepatische en zelden extrahepatische galwegen."},"pt":{"name":"Doença de Caroli"},"pl":{"name":"Choroba Caroliego"},"cs":{"name":"Caroliho nemoc"},"uk":{"name":"Хвороба Каролі","definition":"Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts."},"zh":{"name":"Caroli病"},"tr":{"name":"Caroli hastalığı"}},"xrefs":[{"source":"OMIM","code":"600643","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q44.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB20.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1757434239"},{"source":"MONDO","code":"0010913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162510","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6002","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013003","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182,233]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"PKHD1","name":"PKHD1 ciliary IPT domain containing fibrocystin/polyductin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24710345[PMID]_26385851[PMID]","hgnc":"9016","ensembl":"ENSG00000170927","omim":"606702","loci":["6p12.3-p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"14696493[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15559623[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-26","source":"22908976[PMID]_30020679[PMID]","terms":[{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032545","label":"Abdominal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032106","label":"Conjunctival icterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030153","label":"Cholangiocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045056","label":"Abnormal levels of alpha-fetoprotein","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001405","label":"Periportal fibrosis","frequency":"Excluded (0%)","criteria":null}]}}