OMIA 000405-9823 : Gaucher disease, type I in Sus scrofa
In other species: dog , sheep Possibly relevant human trait(s) and/or gene(s) (MIM number): 230800 (trait) Mendelian trait/disorder: unknown Considered a defect: yes 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).
|1970||Sandison, A.J., Anderson, L.J. :|
|Histocytosis of two pigs and a cow. Conditions resembling lipid storage diseases in man Journal of Pathology 100:207-210, 1970. Pubmed reference: 5464116. DOI: 10.1002/path.1711000310.|
- Created by Frank Nicholas on 17 Oct 2017