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nephronophthisis 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 15

MONDO:0013917

Also known as:CEP164 nephronophthisis (disease)NPHP15nephronophthisis (disease) caused by mutation in CEP164

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.

GeneticsAutosomal recessive · CEP164 (chr 11)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Nephronophthisis and Retinal degeneration; and sometimes findings: Cerebellar vermis hypoplasia, Nystagmus, Seizure, and Global developmental delay and others.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Blindness, Retinal degeneration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CEP164 encodes centrosomal protein 164 (1,460 aa). Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Highest expression in Testis (59.4 TPM) and Brain Cerebellum (33.9 TPM).

Nephronophthisis 15 is associated with mutations in the CEP164 gene on chromosome 11.

The CEP164 protein participates in CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body, PDE6D dissociates from ARL13B:INPP5E, and INPP5E translocates to the primary cilium pathways.

CEP164 is classified as a druggable target (Dna Repair category) with score 0.0.

Diagnosis

Genetic testing for CEP164 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for nephronophthisis 15.

11 publications have been identified in PubMed for nephronophthisis 15. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614845

GARD

Genetic and Rare Diseases Info Center

GARD:15852

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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nephronophthisis 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephronophthisis 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications