Caroli disease
MONDO:0010913Mondo
Findings
No curated finding names Caroli disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010913), read 2026-09-29. CC BY 4.0.
Features
31 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.
- CholestasisHPOHP:0001396
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- CholangitisHPOHP:0030151
- Frequent (30% to 79% of cases)
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Frequent (30% to 79% of cases)
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- Frequent (30% to 79% of cases)
- Intrahepatic cholestasisHPOHP:0001406
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- Abdominal rigidityHPOHP:0032545
- Occasional (5% to 29% of cases)
- AnorexiaHPOHP:0002039
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- ChillsHPOHP:0025143
- Occasional (5% to 29% of cases)
Reported absent (2)
- Abnormal circulating alpha-fetoprotein concentrationHPOHP:0045056
- Periportal fibrosisHPOHP:0001405
Show the remaining 19
- CholelithiasisHPOHP:0001081
- Occasional (5% to 29% of cases)
- CirrhosisHPOHP:0001394
- Occasional (5% to 29% of cases)
- Conjunctival icterusHPOHP:0032106
- Occasional (5% to 29% of cases)
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- Occasional (5% to 29% of cases)
- Esophageal varixHPOHP:0002040
- Occasional (5% to 29% of cases)
- FeverHPOHP:0001945
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of