Gangliosidoses, GM2
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.
Year introduced: 2007 (2000)
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Tree Number(s): C10.228.140.163.100.435.825.300.300, C16.320.565.189.435.825.300.300, C16.320.565.398.641.803.350.300, C16.320.565.595.554.825.300.300, C18.452.132.100.435.825.300.300, C18.452.584.563.641.803.350.300, C18.452.648.189.435.825.300.300, C18.452.648.398.641.803.350.300, C18.452.648.595.554.825.300.300
MeSH Unique ID: D020143
Entry Terms:
- Gangliosidose, GM2
- GM2 Gangliosidose
- Gangliosidoses GM2
- GM2, Gangliosidoses
- G(M2) Gangliosidoses
- GM2 Gangliosidosis
- Gangliosidosis, GM2
- GM2 Gangliosidoses
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