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nephronophthisis 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 13

MONDO:0013718

Also known as:NPHP13nephronophthisis type 13

Overview

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.

GeneticsAutosomal recessive · WDR19 (chr 4)

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: Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Protein in the urine (proteinuria), and Glomerular subepithelial immune-complex deposits and others; and common findings: Renal hypoplasia, Renal interstitial fibrosis, Glomerular sclerosis, and Hepatic cysts. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	9

Genetic Landscape

WDR19 function has not been fully characterized.

Nephronophthisis 13 is associated with mutations in the WDR19 gene on chromosome 4.

Diagnosis

Genetic testing for WDR19 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 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 13.

3 publications have been identified in PubMed for nephronophthisis 13. Research spans Case Report / Case Series (100%).

Recent Publications

Teng CT (2025). [PMID: 41149691](https://pubmed.ncbi.nlm.nih.gov/41149691/). *Pediatr Rep*. [Case Report / Case Series]
Liu L (2024). [PMID: 38715676](https://pubmed.ncbi.nlm.nih.gov/38715676/). *Transl Pediatr*. [Case Report / Case Series]
Tanaka Y (2024). [PMID: 38589766](https://pubmed.ncbi.nlm.nih.gov/38589766/). *CEN Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614377

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 13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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