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)
dog (Canis lupus familiaris)
pig (Sus scrofa)
sheep (Ovis aries)
Edit History
- Created by Frank Nicholas on 16 Sep 2005