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cataract 42 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 42

MONDO:0007283

Also known as:A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.CRYBA2 early-onset non-syndromic cataractCTRCT42

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.

GeneticsAutosomal dominant · CRYBA2 (chr 2)

Clinical Presentation

Features include always present findings: Cataract; and sometimes findings: Glaucoma and Myopia. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Cataract, Developmental cataract, Glaucoma

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.

CRYBA2 encodes crystallin beta A2 (197 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Pituitary (16.8 TPM) and Testis (6.0 TPM).

Cataract 42 is associated with mutations in the CRYBA2 gene on chromosome 2.

CRYBA2 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for CRYBA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 42 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 cataract 42.

202 publications have been identified in PubMed for cataract 42. Kisho has analyzed 148 by research type. Research spans Clinical Trial Publication (34%), Epidemiology / Natural History (32%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Clinical study results	50	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115900

Questions for Your Care Team

→Should I pursue genetic testing for CRYBA2, and what would the results mean for my family?
→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 42

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

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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