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nephronophthisis 1 (NPH1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 1

MONDO:0009728

Also known as:NPH1NPHP1NPHP1 nephronophthisis (disease)

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Overview

Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.

GeneticsAutosomal recessive · NPHP1 (chr 2)

Clinical Trials1 registered · 1 recruiting

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: Nephronophthisis. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Stage 5 chronic kidney disease, Tubulointerstitial fibrosis, Tubular basement membrane disintegration

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.

NPHP1 encodes nephrocystin 1 (732 aa). Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8. Highest expression in Testis (27.2 TPM) and Pituitary (15.0 TPM).

Nephronophthisis 1 is caused by mutations in the NPHP1 gene on chromosome 2.

NPHP1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NPHP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephronophthisis 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

28 publications have been identified in PubMed for nephronophthisis 1. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	11

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 8:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256100

Orphanet

European rare disease database

Orphanet:93592

GARD

Genetic and Rare Diseases Info Center

GARD:18645

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephronophthisis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications