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Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.
Features include always present findings: Nuclear cataract. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
Age of onset: at birth.
CRYBA1 encodes crystallin beta A1 (215 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Testis (0.2 TPM) and Brain Cerebellar Hemisphere (0.2 TPM).
Cataract 10 multiple types is associated with mutations in the CRYBA1 gene on chromosome 17.
CRYBA1 is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for CRYBA1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for cataract 10 multiple types.
7 publications have been identified in PubMed for cataract 10 multiple types. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (29%), and Clinical Trial Publication (14%).
Pu X (2026). [PMID: 41241409](https://pubmed.ncbi.nlm.nih.gov/41241409/). *BMJ Evid Based Med*. [Review / Meta-Analysis]
Yotsukura E (2025). [PMID: 41371979](https://pubmed.ncbi.nlm.nih.gov/41371979/). *BMJ Open Ophthalmol*. [Clinical Trial Publication]
Sun HS (2025). [PMID: 39994538](https://pubmed.ncbi.nlm.nih.gov/39994538/). *BMC Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Karakosta C (2025). [PMID: 39982317](https://pubmed.ncbi.nlm.nih.gov/39982317/). *Proteomes*. [Basic Science / Preclinical]
Shah MH (2025). [PMID: 39994382](https://pubmed.ncbi.nlm.nih.gov/39994382/). *Sci Rep*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC
Online Mendelian Inheritance in Man
Common questions about cataract 10 multiple types
Wei L (2024). [PMID: 39247380](https://pubmed.ncbi.nlm.nih.gov/39247380/). *Heliyon*. [Review / Meta-Analysis]