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Rare Disease

cataract 3 multiple types

MONDO:0011104

Also known as:CRYBB2 cataract (disease)CTRCT3cataract (disease) caused by mutation in CRYBB2

Overview

Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.

GeneticsAutosomal dominant · CRYBB2 (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: Cerulean cataract. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Developmental cataract, Nuclear pulverulent cataract, Sutural cataract

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.

CRYBB2 encodes crystallin beta B2 (205 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Testis (3.7 TPM) and Pituitary (2.1 TPM).

Cataract 3 multiple types is associated with mutations in the CRYBB2 gene on chromosome 22.

CRYBB2 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for CRYBB2 is available. Testing is considered confirmatory for diagnosis.

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 3 multiple types.

55 publications have been identified in PubMed for cataract 3 multiple types. Research spans Case Report / Case Series (31%), Clinical Trial Publication (22%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	17	31%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601547

GARD

Genetic and Rare Diseases Info Center

GARD:15335

Questions for Your Care Team

→Should I pursue genetic testing for CRYBB2, 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 3 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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