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cataract 9 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 9 multiple types

MONDO:0011413

Also known as:CRYAA cataract (disease)CTRCT9cataract (disease) caused by mutation in CRYAA

Overview

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

GeneticsAutosomal recessive, Autosomal dominant · CRYAA (chr 21)

Clinical Presentation

Features include sometimes findings: Microcornea, Iris coloboma, Microphthalmia, and Progressive cataract. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	8	Strabismus, Cataract, Nystagmus

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.

CRYAA encodes crystallin alpha A (173 aa). Contributes to the transparency and refractive index of the lens. Highest expression in Kidney Medulla (3.3 TPM) and Kidney Cortex (0.2 TPM).

Cataract 9 multiple types is associated with mutations in the CRYAA gene on chromosome 21.

CRYAA is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CRYAA 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 9 multiple types.

48 publications have been identified in PubMed for cataract 9 multiple types. Research spans Case Report / Case Series (34%), Gene Therapy / Novel Therapeutics (18%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	15	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604219

GARD

Genetic and Rare Diseases Info Center

GARD:15364

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 9 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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