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nephronophthisis 3 (NPH3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 3

MONDO:0011456

Also known as:NPH3NPHP3NPHP3 nephronophthisis (disease)

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.

GeneticsAutosomal recessive · NPHP3 (chr 3)

OnsetCHILDHOOD, ADULT

ResearchLimited published research (8 articles)

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 fibrosis, and Nephronophthisis; and common findings: Failure to thrive, Polydipsia, Polyuria, and Enlarged kidney. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	9	Stage 5 chronic kidney disease, Tubulointerstitial fibrosis, Reduced kidney function (renal insufficiency)

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.

NPHP3 encodes nephrocystin 3 (1,330 aa). Required for normal ciliary development and function. Highest expression in Ovary (63.6 TPM) and Fallopian Tube (51.7 TPM).

Nephronophthisis 3 is associated with mutations in the NPHP3 gene on chromosome 3.

The NPHP3 protein participates in Myristoylated NPHP3 translocates into the ciliary membrane, UNC119B stimulates translocation of myristoylated ciliary cargo to the primary cilium, and RP2:ARL3:GDP:UNC119B dissociates pathways.

NPHP3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NPHP3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 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 3.

8 publications have been identified in PubMed for nephronophthisis 3. Research spans Case Report / Case Series (63%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Recent Publications

Wu Y (2026). [PMID: 42170844](https://pubmed.ncbi.nlm.nih.gov/42170844/). *Nephrology (Carlton)*. [Case Report / Case Series]
Du X (2026). [PMID: 41898549](https://pubmed.ncbi.nlm.nih.gov/41898549/). *Int J Mol Sci*. [Basic Science / Preclinical]
Roig J (2025). [PMID: 40189576](https://pubmed.ncbi.nlm.nih.gov/40189576/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]
Sawada Y (2025). [PMID: 40475304](https://pubmed.ncbi.nlm.nih.gov/40475304/). *Kidney medicine*. [Case Report / Case Series]
Teng CT (2025). [PMID: 41149691](https://pubmed.ncbi.nlm.nih.gov/41149691/). *Pediatric reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604387

GARD

Genetic and Rare Diseases Info Center

GARD:18179

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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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