OMIA:001427-9615 : Gangliosidosis, GM2, GM2A deficiency in Canis lupus familiaris |
In other species: domestic cat
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 272750 (trait) , 613109 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: no
Cross-species summary: Also known as GM2 gangliosidosis type AB, Tay-Sachs disease type AB
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 (Berl) 67:247-53, 1985. Pubmed reference: 2931941 . |
Edit History
- Created by Frank Nicholas on 27 Jun 2006