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GM2 gangliosidosis

Disease Summary
Associated Targets (4)
Tchem

2

Tbio

1

Tdark

1


GARD Rare
Mondo Description A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
Disease Ontology Description A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
Mondo Term and Equivalent IDs
MONDO:0017720:  GM2 gangliosidosis
GARD:0002522: 
ICD10:E75.0: 
MESH:D020143: 
Orphanet:309152: 
SCTID:33316007: 
UMLS:C0268274: