OMIA:000625 : Mannosidosis, alpha |
Categories: Lysosomal storage disease
Possible human homologues (MIM numbers): 248500 (trait) , 609458 (gene)
Links to relevant human diseases in MONDO:
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.
Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
taurine cattle (Bos taurus)
goat (Capra hircus)
sheep (Ovis aries)
domestic guinea pig (Cavia porcellus)
Edit History
- Created by Frank Nicholas on 16 Sep 2005
- Changed by Imke Tammen2 on 01 Sep 2021
- Changed by Imke Tammen2 on 24 Jan 2023