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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.
Features include very common findings: Intrahepatic cholestasis and Abnormal intrahepatic bile duct morphology; and common findings: Abnormality of the kidney, Jaundice, Fever, and Abdominal pain and others. 35 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 12 | Liver abscess, Intrahepatic cholestasis, Jaundice |
Biomarker and diagnostic research for Caroli syndrome has been reported in the published literature.
Phenotype severity distribution: 2 very common features, 11 common features.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
18 publications have been identified in PubMed for Caroli syndrome. Research spans Case Report / Case Series (44%), Other (17%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 44% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:10 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Caroli syndrome
Lab test results |
4 |
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration |
Blood and immune system | 4 | Low platelet count (thrombocytopenia), Low white blood cell count (decreased total leukocyte count), Abnormal bleeding tendency (abnormal bleeding) |
Kidneys and urinary system | 2 | Abnormality of the kidney, Polycystic kidney dysplasia |
Eyes | 1 | Conjunctival icterus |
Metabolism | 1 | Fever |
Brain and nerves | 1 | Abdominal rigidity |
Skin | 1 | Pruritus |
Heart and blood vessels | 1 | Portal hypertension |
Pregnancy and birth | 1 | Congenital hepatic fibrosis |
Other research |
3 |
17% |
Research summaries | 2 | 11% |
Disease patterns and progression | 2 | 11% |
Testing and diagnosis research | 1 | 6% |
Clinical study results | 1 | 6% |
Laboratory research | 1 | 6% |
Kyalwazi B (2026). [PMID: 30020679](https://pubmed.ncbi.nlm.nih.gov/30020679/). *Unknown Journal*. [Other]
Trepp S (2026). [PMID: 42021674](https://pubmed.ncbi.nlm.nih.gov/42021674/). *Praxis (Bern 1994)*. [Case Report / Case Series]
Hanafy AS (2026). [PMID: 41888235](https://pubmed.ncbi.nlm.nih.gov/41888235/). *Sci Rep*. [Epidemiology / Natural History]
Aien MT (2026). [PMID: 41798673](https://pubmed.ncbi.nlm.nih.gov/41798673/). *Radiol Case Rep*. [Case Report / Case Series]
Agarwal A (2025). [PMID: 40055301](https://pubmed.ncbi.nlm.nih.gov/40055301/). *Indian J Pediatr*. [Other]
Hou F (2025). [PMID: 41039418](https://pubmed.ncbi.nlm.nih.gov/41039418/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Asbik O (2025). [PMID: 40248525](https://pubmed.ncbi.nlm.nih.gov/40248525/). *Cureus*. [Case Report / Case Series]
Huang H (2025). [PMID: 41089214](https://pubmed.ncbi.nlm.nih.gov/41089214/). *Front Genet*. [Basic Science / Preclinical]
Karimzadeh-Soureshjani E (2025). [PMID: 40454330](https://pubmed.ncbi.nlm.nih.gov/40454330/). *Clin Case Rep*. [Case Report / Case Series]
Schumacher J (2025). [PMID: 39586809](https://pubmed.ncbi.nlm.nih.gov/39586809/). *Z Gastroenterol*. [Case Report / Case Series]