{"orpha":480520,"name":"Caroli syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480520/","orphanet_url":"https://www.orpha.net/en/disease/detail/480520","names":{"fr":{"name":"Syndrome de Caroli","definition":"Maladie hépatique génétique rare caractérisée par une dilatation segmentaire multifocale des canaux biliaires intra-hépatiques centraux et périphériques plus petits, associée à une fibrose hépatique congénitale. L'âge d'apparition des signes cliniques est variable, tout comme la progression de la maladie. Les patients manifestent une cholangite, une hépatolithiase et une cholécystolithiase. L'hypertension portale peut apparaître plus tard dans l'évolution de la maladie, et le risque de développer un cholangiocarcinome est considérablement augmenté. Ce syndrome est souvent associé à une polykystose récessive autosomique des reins."},"de":{"name":"Caroli-Syndrom","definition":"Eine seltene genetisch bedingte Lebererkrankung, die gekennzeichnet ist durch multiple segmentale zystische Dilatationen sowohl der zentralen als auch der kleineren peripheren Gallengänge und mit einer angeborenen Leberfibrose einhergeht. Das Alter, in dem die Symptome auftreten, ist variabel, ebenso wie das Fortschreiten der Krankheit. Die Patienten weisen rezidivierende Cholangitis, Hepatolithiasis und Cholezystolithiasis auf. Eine portale Hypertension kann später im Krankheitsverlauf auftreten, und das Risiko, ein Cholangiokarzinom zu entwickeln, ist deutlich erhöht. Das Syndrom ist häufig mit einer autosomal-rezessiven polyzystischen Nierenerkrankung verbunden."},"es":{"name":"Síndrome de Caroli","definition":"Es una enfermedad hepática genética poco frecuente caracterizada por dilataciones quísticas segmentarias múltiples de los conductos biliares centrales y periféricos más pequeños asociadas a fibrosis hepática congénita. La edad de aparición de los síntomas es variable, al igual que la progresión de la enfermedad. Los pacientes presentan colangitis, hepatolitiasis y colecistolitiasis recurrente. La hipertensión portal puede aparecer más tarde en el curso de la enfermedad y el riesgo de desarrollar colangiocarcinoma está aumentado significativamente. El síndrome se asocia a menudo con enfermedad renal poliquística autosómica recesiva."},"it":{"name":"Sindrome di Caroli","definition":"Si tratta di un'epatopatia genetica rara, caratterizzata da dilatazioni cistiche segmentali multiple delle vie biliari più piccole centrali e periferiche, associate alla fibrosi epatica congenita. L'età d'esordio e la progressione della malattia sono variabili. I pazienti presentano colangite ricorrente, epatolitiasi e colecistolitiasi. L'ipertensione portale può insorgere nelle fasi più avanzate della malattia. I pazienti presentano una significativa predisposizione al colangiocarcinoma. Spesso la malattia si associa al rene policistico autosomico recessivo."},"nl":{"name":"Syndroom van Caroli","definition":"Een zeldzame, genetische aandoening van lever, gekarakteriseerd door multipele segmentale cystische dilataties van zowel centrale als kleinere perifere galwegen, geassocieerd met congenitale leverfibrose. De leeftijd waarop symptomen aanvangen is variabel, net als progressie van de ziekte. Patiënten present eren zich met recidiverende cholangitis, hepatolithiase, en cholecystolithiase. Portale hypertensie kan later in het verloop van de ziekte verschijnen, en het risico op ontwikkeling van cholangiocarcinoom is significant verhoogd. Dit syndroom is vaak geassocieerd met autosomaal recessieve polycystische nierziekte."},"pt":{"name":"Síndrome Caroli"},"pl":{"name":"Zespół Caroliego"},"cs":{"name":"Caroliho syndrom"},"uk":{"name":"Синдром Каролі","definition":"A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease."},"zh":{"name":"卡罗利综合征/先天性肝内胆管扩张症","definition":"一种罕见的遗传性肝病，其特征是中央和较小的周围胆管多段性囊性扩张，与先天性肝纤维化有关。发病年龄不定，疾病进展也不定。患者出现反复发作的胆管炎、肝内胆管结石和胆囊结石。门脉高压可在病程后期出现，发生胆管癌的危险性明显增加。本综合征常与常染色体隐性多囊肾病有关。"},"tr":{"name":"Caroli sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q44.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB20.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018808","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848202","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":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17461493[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-28","source":"17461493[PMID]_30020679[PMID]","terms":[{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032545","label":"Abdominal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","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:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100889","label":"Abnormality of the ductus choledochus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030153","label":"Cholangiocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032106","label":"Conjunctival icterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001405","label":"Periportal fibrosis","frequency":"Excluded (0%)","criteria":null}]}}