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cataract 22 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 22 multiple types

MONDO:0012336

Also known as:CRYBB3 early-onset non-syndromic cataractCTRCT22cataract 22

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.

GeneticsAutosomal recessive, Autosomal dominant · CRYBB3 (chr 22)

OnsetCONGENITAL

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 sometimes findings: Glaucoma. 3 total HPO annotations.

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

Age of onset: at birth.

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.

CRYBB3 encodes crystallin beta B3 (211 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Thyroid (3.0 TPM) and Prostate (1.9 TPM).

Cataract 22 multiple types is associated with mutations in the CRYBB3 gene on chromosome 22.

CRYBB3 is classified as a druggable target (Enzyme category) with score 17.4.

Diagnosis

Genetic testing for CRYBB3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 22 multiple types 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 22 multiple types.

156 publications have been identified in PubMed for cataract 22 multiple types. Research spans Epidemiology / Natural History (31%), Clinical Trial Publication (28%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Disease patterns and progression	48	31%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609741

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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cataract 22 multiple types

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

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