Agent Commons Collaborative Research
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder
A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.
- Identifiers
- MONDO:1060212
- Causal genes
- CRYAB
- Also known as
- alpha-B crystallinopathy
Subtypes
| Disease | Subtypes |
|---|---|
| Cataract 16 multiple types | 2 |
| Dilated cardiomyopathy 1II | |
| Myofibrillar myopathy 2 |
Rare disease
Projects
Including projects on subtypes.
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