OMIA 000625-9940 : Mannosidosis, alpha in Ovis aries

In other species: cattle , domestic cat , domestic guinea pig , goat

Category: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 248500 (trait) , 609458 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of mannose-rich compounds, due to the lack of the enzyme alpha-mannosidase, whose task is to cleave mannose from such compounds. Clinical signs include ataxia, head tremor, aggression, and finally paralysis and death.

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. > >
2021 Cholich, L.A., Martinez, A., Micheloud, J.F., Pistán, M.E., García, E.N., Robles, C.A., Ortega, H.H., Gimeno, E.J. :
Alpha-mannosidosis caused by toxic plants in ruminants of Argentina. An Acad Bras Cienc 93:e20191496, 2021. Pubmed reference: 34787167. DOI: 10.1590/0001-3765202120191496.
1995 Stegelmeier, B.L., James, L.F., Panter, K.E., Molyneux, R.J. :
Serum swainsonine concentration and alpha-mannosidase activity in cattle and sheep ingesting Oxytropis sericea and Astragalus lentiginosus (locoweeds) American Journal of Veterinary Research 56:149-154, 1995. Pubmed reference: 7717575.

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  • Created by Frank Nicholas on 06 Sep 2005