OMIA 000405 : Gaucher disease, type I

Possible human homologue (MIM number): 230800 (trait)

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of glucocerebroside in various tissues, due to the lack of the enzyme beta-glucocerebrosidase, whose task is to break down glucocerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells).

Species in which this phene is found:
dog (Canis lupus familiaris)
pig (Sus scrofa)
sheep (Ovis aries)

Edit History

  • Created by Frank Nicholas on 16 Sep 2005