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GM1 gangliosidosis

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description GM1 gangliosidosis is 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.
Disease Ontology Description A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.
Mondo Term and Equivalent IDs
MONDO:0018149:  GM1 gangliosidosis
GARD:0010891: 
MESH:D016537: 
NCIT:C84739: 
Orphanet:354: 
SCTID:124465002: 
UMLS:C0085131: