OMIA 000405-9615 : Gaucher disease, type I in Canis lupus familiaris |
In other species:
pig
,
sheep
Possibly relevant human trait(s) and/or gene(s) (MIM number):
230800 (trait)
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
no
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).
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1982 | Farrow, BR., Hartley, WJ., Pollard, AC., Fabbro, D., Grabowski, GA., Desnick, RJ. : | |
Gaucher disease in the dog. Prog Clin Biol Res 95:645-53, 1982. Pubmed reference: 6812090. | ||
1979 | Van De Water, NS., Jolly, RD., Farrow, BR. : | |
Canine Gaucher disease--the enzymic defect. Aust J Exp Biol Med Sci 57:551-4, 1979. Pubmed reference: 44841. | ||
1973 | Hartley, W.J., Blakemore, W.F. : | |
Neurovisural glucocerebroside storage (Gaucher's disease) in a dog Veterinary Pathology 10:191-201, 1973. Pubmed reference: 4798391. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005