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).
Reference
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. |
Edit History
- Created by Frank Nicholas on 17 Oct 2017