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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.

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  • Created by Frank Nicholas on 06 Sep 2005