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retinitis pigmentosa 67 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 67

MONDO:0014256

Also known as:NEK2 retinitis pigmentosaRP67retinitis pigmentosa caused by mutation in NEK2

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.

GeneticsAutosomal recessive · NEK2 (chr 1)

Clinical Presentation

Features include always present findings: Rod-cone dystrophy.

Explore clinical features

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.

NEK2 encodes NIMA related kinase 2 (445 aa). Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Highest expression in Testis (52.5 TPM) and Cells EBV-transformed lymphocytes (28.8 TPM).

Retinitis pigmentosa 67 is associated with mutations in the NEK2 gene on chromosome 1.

The NEK2 protein participates in Association of Nek2A with MCC:APC/C pathway.

NEK2 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.1.

Diagnosis

Genetic testing for NEK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 67 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.

No clinical trials have been registered for retinitis pigmentosa 67.

56 publications have been identified in PubMed for retinitis pigmentosa 67. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (23%), and Diagnostic / Biomarker (16%).

Research Type	Count	% of Total
Disease patterns and progression	17	30%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615565

GARD

Genetic and Rare Diseases Info Center

GARD:15988

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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retinitis pigmentosa 67

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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