OMIA 000625 : Mannosidosis, alpha

Possible human homologues (MIM numbers): 248500 (trait) , 609458 (gene)

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:
domestic cat (Felis catus)
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