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A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.
Features include always present findings: Polycystic liver disease; and sometimes findings: Elevated circulating alkaline phosphatase concentration. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Ascites, Abdominal distention, Polycystic liver disease |
PRKCSH function has not been fully characterized.
Polycystic liver disease 1 is caused by mutations in the PRKCSH gene on chromosome 19.
Genetic testing for PRKCSH is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
4 clinical trials registered. Interventions under study include drug therapy and other interventions. Pipeline includes 2 PHASE2. Research is sponsored by a mix of industry and academic institutions.
11 publications have been identified in PubMed for polycystic liver disease 1. Research spans Review / Meta-Analysis (36%), Case Report / Case Series (27%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 4 |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC
Online Mendelian Inheritance in Man
1 |
Elevated circulating alkaline phosphatase concentration |
Kidneys and urinary system | 1 | Renal cyst |
Lungs and breathing | 1 | Dyspnea |
Brain and nerves | 1 | Dilatation of the cerebral artery |
Patient case studies | 3 | 27% |
Laboratory research | 2 | 18% |
Other research | 1 | 9% |
New treatment approaches | 1 | 9% |
Brossart AK (2026). [PMID: 41659942](https://pubmed.ncbi.nlm.nih.gov/41659942/). *Clin Case Rep*. [Case Report / Case Series]
Inamura Y (2026). [PMID: 41553611](https://pubmed.ncbi.nlm.nih.gov/41553611/). *CEN Case Rep*. [Review / Meta-Analysis]
Kothadia JP (2026). [PMID: 31751072](https://pubmed.ncbi.nlm.nih.gov/31751072/). *Unknown Journal*. [Review / Meta-Analysis]
Khan S (2025). [PMID: 40733005](https://pubmed.ncbi.nlm.nih.gov/40733005/). *Nutrients*. [Review / Meta-Analysis]
Ji R (2025). [PMID: 40455674](https://pubmed.ncbi.nlm.nih.gov/40455674/). *J Vis Exp*. [Basic Science / Preclinical]
Masyuk T (2025). [PMID: 40672683](https://pubmed.ncbi.nlm.nih.gov/40672683/). *ACS Pharmacol Transl Sci*. [Gene Therapy / Novel Therapeutics]
Wu MY (2025). [PMID: 40620785](https://pubmed.ncbi.nlm.nih.gov/40620785/). *J Surg Case Rep*. [Case Report / Case Series]
Biswas S (2024). [PMID: 38910654](https://pubmed.ncbi.nlm.nih.gov/38910654/). *Cureus*. [Case Report / Case Series]
Mizuno H (2024). [PMID: 38689396](https://pubmed.ncbi.nlm.nih.gov/38689396/). *Kidney360*. [Other]
Duijzer R (2024). [PMID: 39541862](https://pubmed.ncbi.nlm.nih.gov/39541862/). *Cytokine*. [Basic Science / Preclinical]
AI-curated news mentioning polycystic liver disease 1
Updated Aug 16, 2026
A recent study highlights the limitations of the MELD scoring system in assessing patients with isolated polycystic liver disease, particularly in cases of fatal traumatic cyst rupture leading to abdominal compartment syndrome. This research underscores the need for improved evaluation methods in this rare condition.
A case report highlights an instance of intrathoracic rupture of a nonparasitic hepatic cyst in a patient with polycystic liver disease. This finding contributes to the understanding of complications associated with the disease.
A recent study highlights the incidental detection of intrahepatic cholangiocarcinoma in patients who underwent living-donor liver transplantation for polycystic liver disease. This finding underscores the need for careful post-transplant monitoring in this patient population.