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

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

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 272800 (trait) , 606869 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: no

Cross-species summary: Tay-Sachs disease

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2008). OMIA:001461-9888: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

Edit History


  • Created by Frank Nicholas on 20 Sep 2008