OMIA:001427-9615 : Gangliosidosis, GM2, GM2A deficiency in Canis lupus familiaris (dog) |
In other species: domestic cat
Categories: Lysosomal storage disease
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 272750 (trait) , 613109 (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 GM2 gangliosidosis type AB, Tay-Sachs disease type AB
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2006). OMIA:001427-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1987 | Ishikawa, Y., Li, SC., Wood, PA., Li, YT. : |
Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. J Neurochem 48:860-4, 1987. Pubmed reference: 2949061. | |
1985 | Cummings, JF., Wood, PA., Walkley, SU., de Lahunta, A., DeForest, ME. : |
GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol 67:247-53, 1985. Pubmed reference: 2931941. DOI: 10.1007/BF00687809. |
Edit History
- Created by Frank Nicholas on 27 Jun 2006