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cataract 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 23

MONDO:0012489

Also known as:CRYBA4 early-onset non-syndromic cataractCTRCT23cataract type 23

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.

GeneticsAutosomal dominant · CRYBA4 (chr 22)

OnsetCONGENITAL, CHILDHOOD

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: Nuclear cataract and Microcornea. 3 total HPO annotations.

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

Age of onset: at birth, childhood.

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.

CRYBA4 encodes crystallin beta A4 (196 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Testis (3.8 TPM) and Spleen (0.6 TPM).

Cataract 23 is associated with mutations in the CRYBA4 gene on chromosome 22.

CRYBA4 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for CRYBA4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 23 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

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 23.

256 publications have been identified in PubMed for cataract 23. Kisho has analyzed 114 by research type. Research spans Epidemiology / Natural History (39%), Review / Meta-Analysis (20%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Disease patterns and progression	45	39%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 11:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610425

Questions for Your Care Team

→Should I pursue genetic testing for CRYBA4, 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 23

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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