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nephronophthisis 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 14

MONDO:0013916

Also known as:NPHP14ZNF423 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in ZNF423

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.

GeneticsAutosomal recessive, Autosomal dominant · ZNF423 (chr 16)

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 sometimes findings: Situs inversus totalis and Retinal degeneration. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Nephronophthisis, Polycystic kidney dysplasia
Eyes

Genetic Landscape

ZNF423 function has not been fully characterized.

Nephronophthisis 14 is associated with mutations in the ZNF423 gene on chromosome 16.

Diagnosis

Genetic testing for ZNF423 is available. Testing is considered confirmatory for diagnosis.

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 14.

8 publications have been identified in PubMed for nephronophthisis 14. Research spans Case Report / Case Series (63%), Other (13%), and Clinical Trial Publication (13%).

Recent Publications

Cascio S (2026). [PMID: 42080947](https://pubmed.ncbi.nlm.nih.gov/42080947/). *Pediatr Surg Int*. [Other]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *J Med Case Rep*. [Case Report / Case Series]
Matsuo T (2025). [PMID: 40503542](https://pubmed.ncbi.nlm.nih.gov/40503542/). *J Med Cases*. [Case Report / Case Series]
Lo Giudice M (2025). [PMID: 40565597](https://pubmed.ncbi.nlm.nih.gov/40565597/). *Genes (Basel)*. [Case Report / Case Series]
Otludil B (2025). [PMID: 40134261](https://pubmed.ncbi.nlm.nih.gov/40134261/). *Pediatr Transplant*. [Case Report / Case Series]
Beyyumi E (2025). [PMID: 41477467](https://pubmed.ncbi.nlm.nih.gov/41477467/). *Int J Nephrol*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614844

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 14

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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