polycystic kidney disease 5
Findings
No curated finding names polycystic kidney disease 5 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 DZIP1L gene.
Definition from the Mondo Disease Ontology (MONDO:0033281), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Slowly progressive · Childhood onset
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.
- Hyperechogenic kidneysHPOHP:0004719
- 7 of 7 reported patients
- Polycystic kidney dysplasiaHPOHP:0000113
- 6 of 7 reported patients
- HypertensionHPOHP:0000822
- 5 of 7 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 4 of 7 reported patients · Young adult onset
- Reduced renal corticomedullary differentiationHPOHP:0005565
- 3 of 7 reported patients
- Enlarged kidneyHPOHP:0000105
- 2 of 7 reported patients
- Hepatosplenomegaly
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.
- DZIP1LHGNC:26551
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: polycystic kidney disease 5
- Also called
- DZIP1L polycystic kidney diseasepolycystic kidney disease caused by mutation in DZIP1L