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) (MIM number): 268800

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.

Reference


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.

Edit History


  • Created by Frank Nicholas on 22 Sep 2014