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ORPHA:53035Malformation syndrome
What it is
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.
Key facts
- Prevalence
- 1-9 / 1 000 000 (annual incidence)
- Age of onset
- All ages
- Inheritance
- Autosomal recessive, Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
7Sometimes5–29%
18- Abdominal rigidity
- Anorexia
- Ascites
- Chills
- Cholelithiasis
- Cirrhosis
- Conjunctival icterus
- Elevated circulating alanine aminotransferase concentration
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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