autosomal dominant polycystic kidney disease
MONDO:0004691Mondo
Findings
No curated finding names autosomal dominant polycystic kidney disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant form of polycystic kidney disease.
Definition from the Mondo Disease Ontology (MONDO:0004691), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Decreased glomerular filtration rateHPOHP:0012213
- Very frequent (80% to 99% of cases)
- Elevated circulating creatinine concentrationHPOHP:0003259
- Very frequent (80% to 99% of cases)
- Hepatic cystsHPOHP:0001407
- Very frequent (80% to 99% of cases)
- Renal cystHPOHP:0000107
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- Very frequent (80% to 99% of cases)
- Abnormal urinary electrolyte concentrationHPOHP:0012591
- Frequent (30% to 79% of cases)
- AlbuminuriaHPOHP:0012592
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Flank painHPOHP:0030157
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Stage 5 chronic kidney diseaseHPOHP:0003774
- Frequent (30% to 79% of cases)
Show the remaining 14
- Abnormal systemic arterial morphologyHPOHP:0011004
- Occasional (5% to 29% of cases)
- Aortic root aneurysmHPOHP:0002616
- Occasional (5% to 29% of cases)
- Arachnoid cystHPOHP:0100702
- Occasional (5% to 29% of cases)
- Calcium oxalate nephrolithiasisHPOHP:0008672
- Occasional (5% to 29% of cases)
- Dilatation of the cerebral arteryHPOHP:0004944
- Occasional (5% to 29% of cases)
- Enlarged kidneyHPOHP:0000105
- Occasional (5% to 29% of cases)
Genes
9 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.
- ALG8HGNC:23161
- Definitive · ClinGen · Autosomal dominant · 2025
- DNAJB11HGNC:14889
- Definitive · ClinGen · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- IFT140HGNC:29077
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · Natera · Autosomal dominant · 2024
- PKD1HGNC:9008
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (7)
- ALG9-associated autosomal dominant polycystic kidney disease
- polycystic kidney disease 1
- polycystic kidney disease 2
- polycystic kidney disease 3 with or without polycystic liver disease
- polycystic kidney disease 6 with or without polycystic liver disease
- polycystic kidney disease 7
- polycystic kidney disease 8
Other names
2 names
Resolves to: autosomal dominant polycystic kidney disease
- Also called
- ADPKDpolycystic kidney disease, autosomal dominant