polycystic kidney disease 2
MONDO:0013131Mondo
Findings
No curated finding names polycystic kidney disease 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.
Definition from the Mondo Disease Ontology (MONDO:0013131), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
13 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.
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 1 of 1 reported patient
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypokalemiaHPOHP:0002900
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Multiple renal cystsHPO
Show the remaining 1
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 0 of 1 reported patient
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.
- PKD2HGNC:9009
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
6 names
Resolves to: polycystic kidney disease 2
- Also called
- APKD2autosomal dominant polycystic kidney disease caused by mutation in PKD2Autosomal dominant polycystic kidney disease type 2PKD2PKD2 autosomal dominant polycystic kidney diseasepolycystic kidney disease type 2