polycystic kidney disease 6 with or without polycystic liver disease
Findings
No curated finding names polycystic kidney disease 6 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 polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.
Definition from the Mondo Disease Ontology (MONDO:0054842), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Progressive
HPO, annotations 2026-09-02
Features
7 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
- 20 of 21 reported patients
- HypertensionHPOHP:0000822
- 11 of 20 reported patients
- Hepatic cystsHPOHP:0001407
- 9 of 20 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 7 of 23 reported patients
- GoutHPOHP:0001997
- 2 of 23 reported patients
- Decreased glomerular filtration rateHPOHP:0012213
- Renal insufficiencyHPOHP:0000083
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.
- DNAJB11HGNC:14889
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
2 names
Resolves to: polycystic kidney disease 6 with or without polycystic liver disease
- Also called
- DNAJB11 polycystic kidney diseasepolycystic kidney disease caused by mutation in DNAJB11