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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.
Features include very common findings: Cholestasis; and common findings: Jaundice, Intrahepatic cholestasis, Abdominal pain, and Conjugated hyperbilirubinemia and others. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 17 | Cholestasis, Jaundice, Intrahepatic cholestasis |
Biomarker and diagnostic research for Caroli disease has been reported in the published literature.
Phenotype severity distribution: 1 very common feature, 7 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Caroli disease.
32 publications have been identified in PubMed for Caroli disease. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (19%), and Clinical Trial Publication (6%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 19 | 59% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:06 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Caroli disease
Lab test results
3 |
Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine aminotransferase concentration |
Blood and immune system | 2 | Enlarged spleen (splenomegaly), Elevated white blood cell count (increased total leukocyte count) |
Kidneys and urinary system | 1 | Polycystic kidney dysplasia |
Skin | 1 | Pruritus |
Growth and development | 1 | Weight loss |
Metabolism | 1 | Fever |
Eyes | 1 | Conjunctival icterus |
Brain and nerves | 1 | Abdominal rigidity |
Heart and blood vessels | 1 | Portal hypertension |
6 |
19% |
Clinical study results | 2 | 6% |
Laboratory research | 2 | 6% |
Disease patterns and progression | 2 | 6% |
Testing and diagnosis research | 1 | 3% |
Abraham A (2026). [PMID: 42087729](https://pubmed.ncbi.nlm.nih.gov/42087729/). *Int J Surg Pathol*. [Review / Meta-Analysis]
Hane A (2026). [PMID: 40670097](https://pubmed.ncbi.nlm.nih.gov/40670097/). *Intern Med*. [Case Report / Case Series]
Said S (2026). [PMID: 41399743](https://pubmed.ncbi.nlm.nih.gov/41399743/). *J Vasc Surg Cases Innov Tech*. [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]
Kato S (2026). [PMID: 41804000](https://pubmed.ncbi.nlm.nih.gov/41804000/). *J Med Case Rep*. [Case Report / Case Series]
Ferrari C (2026). [PMID: 41467982](https://pubmed.ncbi.nlm.nih.gov/41467982/). *J Laparoendosc Adv Surg Tech A*. [Epidemiology / Natural History]
Trepp S (2026). [PMID: 42021674](https://pubmed.ncbi.nlm.nih.gov/42021674/). *Praxis (Bern 1994)*. [Case Report / Case Series]
Lapunzina-Soler P (2026). [PMID: 41751613](https://pubmed.ncbi.nlm.nih.gov/41751613/). *Genes (Basel)*. [Basic Science / Preclinical]
Aslanov AD (2025). [PMID: 40590744](https://pubmed.ncbi.nlm.nih.gov/40590744/). *Khirurgiia (Mosk)*. [Case Report / Case Series]
AI-curated news mentioning Caroli disease
Updated Aug 4, 2026
A novel PKHD1 missense variant has been identified that disrupts splicing in a fetus diagnosed with Caroli disease. This discovery adds to the understanding of the genetic underpinnings of this rare condition.
A case report highlights the CT imaging features of Caroli disease in association with autosomal recessive polycystic kidney disease. This study contributes to the understanding of the imaging characteristics of these rare conditions.