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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 Nov 3, 2026, 11:45 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 Nov 2, 2026
open label uncontrolled clinical trial of immunogenicity and safety of yellow fever vaccine in adults with chronic kidney disease as compared to immunocompetent
living kidney transplantation in a patient with end stage kidney disease due to rare juvenile nail patella like renal disease without lmx1b mutation
sodium glucose cotransporter 2 inhibitors in chronic kidney disease and type 2 diabetes a narrative review
A new clinical trial funded by Breakthrough T1D is testing islet cell transplantation with Eledon Pharmaceuticals' tegoprubart in individuals with type 1 diabetes and chronic kidney disease. This marks a significant inclusion as nearly one in three people with type 1 diabetes develop chronic kidney disease, highlighting the need for innovative treatment options.
City Therapeutics’ lead RNA interference therapy could become an alternative to blockbuster-selling anticoagulants. The company’s technology for designing RNAi drugs and delivering them to tissues throughout the body has already led to partnerships with Bausch + Lomb in eye diseases and ... City Therapeutics’ lead RNA interference therapy could become an alternative to blockbuster-selling anticoagulants. The company’s technology for designing RNAi drugs and delivering them to tissues throughout the body has already led to partnerships with Bausch + Lomb in eye diseases and Biogen in central nervous system disorders. Using RNA to interfere with a disease-driving protein is a proven way to address disease targets in the liver. City Therapeutics is one of the companies developing the next-generation of these medicines for a wealth of targets in the rest of the body. With its lead drug candidate in clinical development for cardiovascular indications, the biotech now has $200 million in IPO cash to fund clinical development of that program and others in its pipeline. City is also exploring use of this siRNA for anemia associated with chronic kidney disease and chronic inflammatory disorders, including inflammatory bowel disease. In these indications, elevated hepcidin and iron restriction contribute to the disease. City’s research has attracted collaborators. Bausch + Lomb is working with the biotech to develop RNAi therapies for eye diseases, specifically geographic atrophy. Cambridge, Massachusetts-based City is developing RNA interference (RNAi) drugs, which employ small interfering RNA (siRNA) to target and degrade messenger RNA before it can be translated into a protein that contributes to disease. This modality, also called gene silencing, was pioneered by Alnylam Pharmaceuticals, which sells four FDA-approved RNAi drugs — all for rare diseases stemming from liver proteins.