polycystic kidney disease 3 with or without polycystic liver disease
Findings
No curated finding names polycystic kidney disease 3 with or without polycystic liver disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.
Definition from the Mondo Disease Ontology (MONDO:0010916), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 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 kidney dysplasiaHPOHP:0000113
- 18 of 18 reported patients
- Hepatic cystsHPOHP:0001407
- 15 of 19 reported patients
- HypertensionHPOHP:0000822
- 6 of 18 reported patients
- Dilatation of the cerebral arteryHPOHP:0004944
- 2 of 20 reported patients
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.
- GANABHGNC:4138
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: polycystic kidney disease 3 with or without polycystic liver disease
- Also called
- APKD3autosomal dominant polycystic kidney disease caused by mutation in GANABGANAB autosomal dominant polycystic kidney diseasePKD3polycystic kidney disease 3, autosomal dominantpolycystic kidney disease type 3polycystic kidney disease, adult, type 3polycystic kidney disease, type 3