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nephronophthisis-like nephropathy 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis-like nephropathy 1

MONDO:0013163

Also known as:NPHP-XPNPEP3NPHPL1XPNPEP3 nephronophthisis (disease)

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.

GeneticsAutosomal recessive · XPNPEP3 (chr 22)

ResearchLimited published research (3 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: Tubular basement membrane disintegration, Nephronophthisis, Renal tubular atrophy, and Hyperechogenic kidneys; and common findings: Stage 5 chronic kidney disease, Seizure, Chronic pancreatitis, and Inner ear hearing loss (sensorineural hearing impairment) and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6

Genetic Landscape

XPNPEP3 function has not been fully characterized.

Nephronophthisis-like nephropathy 1 is caused by mutations in the XPNPEP3 gene on chromosome 22.

Diagnosis

Genetic testing for XPNPEP3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 7 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-like nephropathy 1.

3 publications have been identified in PubMed for nephronophthisis-like nephropathy 1. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Clerici S (2025). [PMID: 40263625](https://pubmed.ncbi.nlm.nih.gov/40263625/). *EMBO molecular medicine*. [Review / Meta-Analysis]
Staedler K (2025). [PMID: 40953058](https://pubmed.ncbi.nlm.nih.gov/40953058/). *J Neuromuscul Dis*. [Case Report / Case Series]
Zhen Z (2024). [PMID: 39363162](https://pubmed.ncbi.nlm.nih.gov/39363162/). *BMC pediatrics*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613159

GARD

Genetic and Rare Diseases Info Center

GARD:18180

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-like nephropathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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