OMIA:000403 : Gangliosidosis, GM2, generic
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM2 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme hexosaminidase, whose task is to break down the GM2 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
pig (Sus scrofa)
- Created by Frank Nicholas on 16 Sep 2005
- Changed by Frank Nicholas on 08 Jul 2012