Categories: Lysosomal storage disease , Nervous system phene

Possible human homologues (MIM numbers): 268800 (trait) , 606873 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0010006: Sandhoff disease

Cross-species summary: Also known as Sandhoff disease and GM2 gangliosidosis variant 0. 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)
springbok (Antidorcas marsupialis)