Caroli syndrome
Findings
No curated finding names Caroli syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 with 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.
Definition from the Mondo Disease Ontology (MONDO:0018808), read 2026-09-29. CC BY 4.0.
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal intrahepatic bile duct morphologyHPOHP:0011040
- Very frequent (80% to 99% of cases)
- Intrahepatic cholestasisHPOHP:0001406
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abdominal rigidityHPOHP:0032545
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Frequent (30% to 79% of cases)
- ChillsHPOHP:0025143
- Frequent (30% to 79% of cases)
- Cholangitis
Show the remaining 23
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- Abnormal ductus choledochus morphologyHPOHP:0100889
- Occasional (5% to 29% of cases)
- CholangiocarcinomaHPOHP:0030153
- Occasional (5% to 29% of cases)
- CirrhosisHPOHP:0001394
- Occasional (5% to 29% of cases)
- Congenital hepatic fibrosisHPOHP:0002612
- Occasional (5% to 29% of cases)