OMIA:001462-59523 : Gangliosidosis, GM2, type II (Sandhoff or variant 0) in Antidorcas marsupialis (springbok) |
In other species: dog , domestic cat
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 268800 (trait) , 606873 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2014). OMIA:001462-59523: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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