OMIA:001462 : Gangliosidosis, GM2, type II (Sandhoff or variant 0)

Categories: Lysosomal storage disease

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

Links to MONDO diseases:

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)

Edit History

  • Created by Frank Nicholas on 20 Sep 2008
  • Changed by Frank Nicholas on 08 Jul 2012
  • Changed by Tosso Leeb on 29 May 2013
  • Changed by Frank Nicholas on 26 Feb 2014
  • Changed by Frank Nicholas on 04 Nov 2016
  • Changed by Imke Tammen2 on 15 Jul 2021
  • Changed by Imke Tammen2 on 24 Jan 2023