OMIA:000402-9913 : Gangliosidosis, GM1 in Bos taurus (taurine cattle) |
In other species: emu , dog , domestic cat , sheep
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
Breed:
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000402-9913: 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.
| 1992 | Figueras, A., Moralesolivas, F.J., Capella, D., Palop, V., Laporte, J.R. : |
| Bovine gangliosides and acute motor polyneuropathy. BMJ 305:1330-1, 1992. Pubmed reference: 1309191. DOI: 10.1136/bmj.305.6865.1330. | |
| 1981 | Donnelly, W.J.C., Sheahan, B.J. : |
| GM1 gangliosidosis of Friesian calves: a review Irish Veterinary Journal 35:45-55, 1981. | |
| 1978 | Sheahan, BJ., Donnelly, WJ., Grimes, TD. : |
| Ocular pathology of bovine GM1 gangliosidosis. Acta Neuropathol 41:91-5, 1978. Pubmed reference: 416644. | |
| 1977 | Donnelly, W.J.C., Sheahan, B.J. : |
| Bovine GM1 gangliosidosis: an inborn lysosomal disease Veterinary Science Communications 1:65-74, 1977. | |
| Johnson, AH., Donnelly, WJ., Sheahan, BJ. : | |
| The glycosaminoglycan content of the liver in bovine GM1 gangliosidosis. Res Vet Sci 22:256-66, 1977. Pubmed reference: 404680. | |
| Sheahan, BJ., Roche, E., Donnelly, WJ. : | |
| Studies on cultured skin fibroblasts from calves with GM1 gangliosidosis. J Comp Pathol 87:205-11, 1977. Pubmed reference: 16043. | |
| 1975 | Donnelly, W.J.C., Sheahan, B.J. : |
| G-m-1-gangliosidosis type II. Bovine G-m-1-gangliosidosis, cerebrospinal lipodosis of Friesian cattle American Journal of Pathology 81:255-258, 1975. Pubmed reference: 810033. | |
| 1974 | Sheahan, B.J., Donnelly, W.J.C. : |
| Enzyme histochemical and ultrastructural alterations in the brains of Friesian calves with G-m1 gangliosidosis Acta Neuropathologia 30:73-84, 1974. | |
| 1973 | Donnelly, W.J.C., Sheahan, B.J., Rogers, T.A. : |
| GM1-gangliosidosis in Friesian calves Journal of Pathology 111:173-179, 1973. Pubmed reference: 4128200. DOI: 10.1002/path.1711110305. | |
| Donnelly, W.J.C., Sheahan, B.J., Kelly, M. : | |
| Beta-galactosidase deficiency in GM1 gangliosidosis in Friesian calves Research in Veterinary Science 15:139-141, 1973. Pubmed reference: 4778483. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 19 Jun 2024