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nephronophthisis 4 (NPHP4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 4

MONDO:0011752

Also known as:NPHP4NPHP4 nephronophthisis (disease)juvenile nephronophthisis 4

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.

GeneticsAutosomal recessive · NPHP4 (chr 1)

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: Stage 5 chronic kidney disease, Tubulointerstitial fibrosis, Polydipsia, and Low red blood cell count (anemia) and 5 more.

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

NPHP4 encodes nephrocystin 4 (1,426 aa). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Highest expression in Pituitary (22.3 TPM) and Thyroid (21.5 TPM).

Nephronophthisis 4 is caused by mutations in the NPHP4 gene on chromosome 1.

NPHP4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NPHP4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephronophthisis 4 has been reported in the published literature.

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 4.

11 publications have been identified in PubMed for nephronophthisis 4. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (27%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 8:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606966

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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Kisho

nephronophthisis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephronophthisis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications