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Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.
Features include always present findings: Hyperechogenic kidneys; and very common findings: Polycystic kidney dysplasia. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 5 | Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
DZIP1L encodes DAZ interacting zinc finger protein 1 like (767 aa). Involved in primary cilium formation. Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane Highest expression in Cervix Endocervix (16.0 TPM) and Uterus (14.3 TPM).
Polycystic kidney disease 5 is associated with mutations in the DZIP1L gene on chromosome 3.
DZIP1L is classified as a druggable target with score 0.0.
Genetic testing for DZIP1L is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for polycystic kidney disease 5 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 3 common features.
No clinical trials have been registered for polycystic kidney disease 5.
204 publications have been identified in PubMed for polycystic kidney disease 5. Kisho has analyzed 102 by research type. Research spans Review / Meta-Analysis (25%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (23%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 25 | 25% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Heart and blood vessels
1 |
Hypertension |
Digestive system | 1 | Hepatosplenomegaly |
Age of onset: adulthood.
Disease patterns and progression
24 |
24% |
Laboratory research | 23 | 23% |
Clinical study results | 12 | 12% |
New treatment approaches | 6 | 6% |
Testing and diagnosis research | 5 | 5% |
Patient case studies | 4 | 4% |
Other research | 3 | 3% |
Stevens KJ (2026). [PMID: 31613505](https://pubmed.ncbi.nlm.nih.gov/31613505/). *Unknown Journal*. [Diagnostic / Biomarker]
Madariaga L (2026). [PMID: 40924182](https://pubmed.ncbi.nlm.nih.gov/40924182/). *Pediatr Nephrol*. [Review / Meta-Analysis]
Finnigan NA (2026). [PMID: 29261941](https://pubmed.ncbi.nlm.nih.gov/29261941/). *Unknown Journal*. [Basic Science / Preclinical]
Duijzer R (2026). [PMID: 40793999](https://pubmed.ncbi.nlm.nih.gov/40793999/). *Liver Transpl*. [Epidemiology / Natural History]
Xiong Q (2026). [PMID: 41186985](https://pubmed.ncbi.nlm.nih.gov/41186985/). *J Am Soc Nephrol*. [Basic Science / Preclinical]
Yu ASL (2026). [PMID: 41686506](https://pubmed.ncbi.nlm.nih.gov/41686506/). *Clin J Am Soc Nephrol*. [Basic Science / Preclinical]
Ma D (2026). [PMID: 41653026](https://pubmed.ncbi.nlm.nih.gov/41653026/). *Genet Med*. [Gene Therapy / Novel Therapeutics]
Fang C (2025). [PMID: 40726372](https://pubmed.ncbi.nlm.nih.gov/40726372/). *Curr Opin Nephrol Hypertens*. [Review / Meta-Analysis]
Cayron AF (2025). [PMID: 40249101](https://pubmed.ncbi.nlm.nih.gov/40249101/). *Cardiovasc Res*. [Epidemiology / Natural History]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]
AI-curated news mentioning polycystic kidney disease 5
Updated Sep 1, 2026
A recent study published in PubMed explores metabolomic responses to oral glucose tolerance tests and hyperinsulinemic-euglycemic clamps in chronic kidney disease (CKD) patients. The findings may provide insights into metabolic dysregulation in CKD, potentially guiding future therapeutic strategies.
A rare case study highlights the relationship between hypertriglyceridemia, chronic kidney disease, and proteinuria in a patient with apolipoprotein C-II amyloidosis. This research contributes to the understanding of the disease's impact on kidney function.
A recent study investigates the impact of acute kidney injury on hospitalization outcomes for patients with chronic kidney disease undergoing cardiac procedures with cardiopulmonary bypass. The findings highlight the significant risks associated with these procedures in this vulnerable patient population.
FDA classifies a prognostic test for assessing chronic kidney disease progression into class II, indicating it will now be subject to special controls. This classification aims to enhance the regulatory framework for devices used in monitoring kidney disease.
R1 Therapeutics has commenced a global Phase 2b trial of AP306 for hyperphosphatemia in patients with chronic kidney disease on dialysis. This first-in-class pan phosphate transporter inhibitor aims to address a significant unmet need in this patient population.