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cataract 40 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 40

MONDO:0010544

Also known as:CTRCT40NHS early-onset non-syndromic cataractcataract 40 X-linked

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.

GeneticsX-linked · NHS (chr X)

OnsetCONGENITAL

Clinical Presentation

Features include: Nuclear cataract, Severely reduced visual acuity, and Sutural cataract.

Organ System	Phenotype Count	Example Features
Eyes	2	Nuclear cataract, Sutural cataract

Age of onset: at birth.

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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.

NHS encodes NHS actin remodeling regulator (1,651 aa). May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Highest expression in Artery Aorta (13.7 TPM) and Cervix Endocervix (13.1 TPM).

Cataract 40 is associated with mutations in the NHS gene on chromosome X.

NHS is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NHS 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 cataract 40.

231 publications have been identified in PubMed for cataract 40. Kisho has analyzed 26 by research type. Research spans Epidemiology / Natural History (54%), Clinical Trial Publication (23%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Disease patterns and progression	14	54%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:302200

Questions for Your Care Team

→Should female family members consider carrier screening for NHS?
→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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cataract 40

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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