polycystic kidney disease
Findings
No curated finding names polycystic kidney disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
Definition from the Mondo Disease Ontology (MONDO:0020642), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- Polycystic kidney dysplasiaMondoHP:0000113
Genes
3 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.
- CFAP47HGNC:26708
- Limited · University of Washington Center for Rare Disease Research (UW-CRDR) · X-linked · 2020
- Disputed Evidence · ClinGen · X-linked · 2025
- HGNC:18525HGNC:18525
- Limited · ClinGen · Autosomal recessive · 2024
- AQP11HGNC:19940
- No Known Disease Relationship · Illumina · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
2 names
Resolves to: polycystic kidney disease
- Also called
- fibrocystic renal diseasePKD - polycystic kidney disease