OMIA:000405 : Gaucher disease, generic

Categories: Lysosomal storage disease

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

Edit History

  • Created by Frank Nicholas on 16 Sep 2005
  • Changed by Imke Tammen2 on 09 Feb 2023