OMIA 001462-59523 : Gangliosidosis, GM2, type II (Sandhoff or variant 0) in Antidorcas marsupialis
In other species: dog , domestic cat Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 268800 (trait) , 606873 (gene) Mendelian trait/disorder: yes Mode of inheritance: Autosomal Recessive Considered a defect: yes Key variant known: no 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.
|2015||Herder, V., Kummrow, M., Leeb, T., Sewell, A.C., Hansmann, F., Lehmbecker, A., Wohlsein, P., Baumgärtner, W. :|
|Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis). Vet Pathol 52:543-52, 2015. Pubmed reference: 25232033. DOI: 10.1177/0300985814549210.|
- Created by Frank Nicholas on 22 Sep 2014