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nephronophthisis 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 9

MONDO:0013444

Also known as:NEK8 nephronophthisis (disease)NPHP9nephronophthisis (disease) caused by mutation in NEK8

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.

GeneticsAutosomal recessive · NEK8 (chr 17)

ResearchLimited published research (4 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, Polydipsia, Low red blood cell count (anemia), and Nephronophthisis and others; and common findings: Retinal degeneration.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Stage 5 chronic kidney disease, Nephronophthisis, Renal cortical microcysts

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.

NEK8 encodes NIMA related kinase 8 (692 aa). Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia. Highest expression in Cells EBV-transformed lymphocytes (18.6 TPM) and Thyroid (18.3 TPM).

Nephronophthisis 9 is associated with mutations in the NEK8 gene on chromosome 17.

NEK8 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for NEK8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephronophthisis 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 common 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.

No clinical trials have been registered for nephronophthisis 9.

4 publications have been identified in PubMed for nephronophthisis 9. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

Recent Publications

Roig J (2025). [PMID: 40189576](https://pubmed.ncbi.nlm.nih.gov/40189576/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]
Blasco M (2024). [PMID: 38972501](https://pubmed.ncbi.nlm.nih.gov/38972501/). *American journal of kidney diseases : the official journal of the National Kidney Foundation*. [Diagnostic / Biomarker]
Beyrent E (2024). [PMID: 39110529](https://pubmed.ncbi.nlm.nih.gov/39110529/). *Molecular biology of the cell*. [Basic Science / Preclinical]
Salehi O (2024). [PMID: 37644229](https://pubmed.ncbi.nlm.nih.gov/37644229/). *Pediatric nephrology (Berlin, Germany)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613824

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 9

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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