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nephronophthisis 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 18

MONDO:0014374

Also known as:CEP83 nephronophthisis (disease)NPHP18nephronophthisis (disease) caused by mutation in CEP83

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.

GeneticsAutosomal recessive · CEP83 (chr 12)

OnsetCHILDHOOD

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 always present findings: Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Nephronophthisis, and Renal tubular atrophy and others; and common findings: Cholestasis, Hypertension, and Intellectual disability. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Nephronophthisis

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.

CEP83 encodes centrosomal protein 83 (701 aa). Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. Highest expression in Testis (16.1 TPM) and Cells EBV-transformed lymphocytes (10.2 TPM).

Nephronophthisis 18 is associated with mutations in the CEP83 gene on chromosome 12.

The CEP83 protein participates in C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole pathway.

CEP83 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CEP83 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 3 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 18.

12 publications have been identified in PubMed for nephronophthisis 18. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	6	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615862

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 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

nephronophthisis 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications