OMIA:000626-59523 : Mannosidosis, beta in Antidorcas marsupialis (springbok) |
In other species: dog , domestic cat , taurine cattle , goat
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 248510 (trait) , 609489 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Laurent et al. (2010) had insufficient evidence to confidently distinguish between alph- and beta-mannosidosis; the reference has been entered under the latter, because it seems the more likely of the two. A firm decision awaits further evidence.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2010). OMIA:000626-59523: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2010 | Laurent, S., Sabot, AS., Colle, MA., Nicolier, A. : |
Lysosomal storage disease in two presumed-related springboks (Antidorcas marsupialis). J Zoo Wildl Med 41:104-10, 2010. Pubmed reference: 20722261. |
Edit History
- Created by Frank Nicholas on 20 Oct 2010