Categories: Lysosomal storage disease

Possible human homologues (MIM numbers): 230800 (trait) , 608013 (trait) , 230900 (trait) , 231000 (trait) , 231005 (trait)

Links to MONDO diseases: No links.

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 glucococerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells). This phene has been renamed from 'Gaucher disease, type I' to 'Gaucher disease, generic'. Entries for specific types will be created (9/02/2023).

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