polycystic liver disease 1
Findings
No curated finding names polycystic liver disease 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008265), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
2 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.
- Polycystic liver diseaseHPOHP:0006557
- 6 of 6 reported patients
- Dilatation of the cerebral arteryHPOHP:0004944
- 0 of 6 reported patients
Genes
4 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.
- PRKCSHHGNC:9411
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- SEC61BHGNC:16993
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- LRP5HGNC:6697
- Supportive · Orphanet · Autosomal dominant · 2021
- SEC63HGNC:21082
Where it sits
Other names
4 names
Resolves to: polycystic liver disease 1
- Also called
- nonsyndromic congenital polycystic liver diseasenonsyndromic polycystic liver disease (disease)PCLD1polycystic liver disease 1 with or without kidney cysts