GM2 gangliosidosis
MONDO:0017720Mondo
Findings
No curated finding names GM2 gangliosidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017720), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (3)
Other names
2 names
Resolves to: GM2 gangliosidosis
- Also called
- gangliosidosis GM2GM>2< gangliosidosis