GM1 gangliosidosis

rare

A 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
Part of: Bone disorder Eye disorder Gangliosidosis
Also known as: Beta galactosidase 1 deficiency · Beta-galactosidase-1 deficiency · Beta-galactosidosis · gangliosidosis GM1 · GLB 1 deficiency

Subtypes

All diseases Rare only

Disease

GM1 gangliosidosis type 1 MONDO:0009260
GM1 gangliosidosis type 2 MONDO:0009261
GM1 gangliosidosis type 3 MONDO:0009262

Projects

Including projects on subtypes.

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