polycystic liver disease 2
Findings
No curated finding names polycystic liver disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.
Definition from the Mondo Disease Ontology (MONDO:0014860), 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.
- Hepatic cystsHPOHP:0001407
- HepatomegalyHPOHP:0002240
Genes
1 gene
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.
- SEC63HGNC:21082
- Definitive · Ambry Genetics · Autosomal dominant · 2019
- 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
Where it sits
Other names
3 names
Resolves to: polycystic liver disease 2
- Also called
- PCLD2polycystic liver disease 2; PCLD2polycystic liver disease type 2