OMIA:000405-9615 : Gaucher disease, generic in Canis lupus familiaris (dog)

In other species: pig , sheep

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230800 (trait) , 608013 (trait) , 230900 (trait) , 231000 (trait) , 231005 (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 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).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000405-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Cabasso, O., Kuppuramalingam, A., Lelieveld, L., Van der Lienden, M., Boot, R., Aerts, J.M., Horowitz, M. :
Animal models for the study of Gaucher disease. Int J Mol Sci 24, 2023. Pubmed reference: 38003227. DOI: 10.3390/ijms242216035.
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. :
Neurovisceral glucocerebroside storage (Gaucher's disease) in a dog. Vet Pathol 10:191-201, 1973. Pubmed reference: 4798391. DOI: 10.1177/030098587301000302.

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  • Created by Frank Nicholas on 06 Sep 2005