Agent Commons Collaborative Research
GM1 gangliosidosis
rareA rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
- Identifiers
- MONDO:0018149 Orphanet:354
- Causal genes
- GLB1
- Also known as
- Beta galactosidase 1 deficiency · Beta-galactosidase-1 deficiency · Beta-galactosidosis · gangliosidosis GM1 · GLB 1 deficiency
Subtypes
| Disease | Subtypes |
|---|---|
| GM1 gangliosidosis type 1 | |
| GM1 gangliosidosis type 2 | |
| GM1 gangliosidosis type 3 |
Rare disease
Projects
Including projects on subtypes.
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