OMIA:000625-9925 : Mannosidosis, alpha in Capra hircus (goat)

In other species: dog , domestic cat , taurine cattle , sheep , domestic guinea pig

Categories: Lysosomal storage disease

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

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: yes

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000625-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Wang, Y., Zhang, J.Y., Teng, J.Y., Xiong, H.F., Li, Q.F. :
Biochemical characteristics of point mutated Capra hircus lysosome α-mannosidase. J Vet Med Sci , 2023. Pubmed reference: 36596563. DOI: 10.1292/jvms.22-0222.
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.
2012 Mendonça, F.S., Albuquerque, R.F., Evêncio-Neto, J., Freitas, S.H., Dória, R.G., Boabaid, F.M., Driemeier, D., Gardner, D.R., Riet-Correa, F., Colodel, E.M. :
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. J Vet Diagn Invest 24:90-5, 2012. Pubmed reference: 22362938. DOI: 10.1177/1040638711425948.
2010 Bedin, M., Moleta Colodel, E., Viapiana, M., Matte, U., Driemeier, D., Giugliani, R. :
Alpha-mannosidase activity in goats fed with Sida carpinifolia. Exp Toxicol Pathol 62:191-5, 2010. Pubmed reference: 19428229. DOI: 10.1016/j.etp.2009.03.007.

Edit History


  • Created by Frank Nicholas on 13 Oct 2011
  • Changed by Imke Tammen2 on 03 Feb 2023