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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005