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OMIA:001461-9888 : Gangliosidosis, GM2, type I (B variant) in Muntiacus muntjak

In other species: American flamingo , dog , pig , sheep , rabbit

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 272800 (trait) , 606869 (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: Tay-Sachs disease

Reference

1999 Fox, J., Li, Y.T., Dawson, G., Alleman, A., Johnsrude, J., Schumacher, J., Homer, B. :
Naturally occurring G(M2) gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B G(M2) gangliosidosis) Acta Neuropathologica 97:57-62, 1999. Pubmed reference: 9930895 .

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  • Created by Frank Nicholas on 20 Sep 2008