OMIA 001427-9615 : Gangliosidosis, GM2, GM2A deficiency in Canis lupus familiaris

In other species: domestic cat

Category: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 272750 (trait) , 613109 (gene)

Links to MONDO diseases: No links.

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

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