polycystic kidney disease 1
MONDO:0008263Mondo
Findings
No curated finding names polycystic kidney disease 1 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 PKD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008263), read 2026-09-29. CC BY 4.0.
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.
- Mitral valve prolapseHPOHP:0001634
- 42 of 163 reported patients
- Cerebral berry aneurysmHPOHP:0007029
- 4 of 88 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.
- PKD1HGNC:9008
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: polycystic kidney disease 1
- Also called
- APKD1autosomal dominant polycystic kidney disease caused by mutation in PKD1PKD1PKD1 autosomal dominant polycystic kidney diseasepolycystic kidney disease type 1