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OMIA:000403-9615 : Gangliosidosis, GM2, generic in Canis lupus familiaris (dog)

In other species: domestic cat , pig

Categories: Lysosomal storage disease , Nervous system phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: no

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM2 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme hexosaminidase, whose task is to break down the GM2 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000403-9615: 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 Cocostîrc, V., Paștiu, A.I., Pusta, D.L. :
An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) 13:3568, 2023. Pubmed reference: 38003185. DOI: 10.3390/ani13223568.
2016 Kohyama, M., Yabuki, A., Ochiai, K., Nakamoto, Y., Uchida, K., Hasegawa, D., Takahashi, K., Kawaguchi, H., Tsuboi, M., Yamato, O. :
In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016. Pubmed reference: 27036194. DOI: 10.1186/s12917-016-0691-y.
2013 Hasegawa, D., Tamura, S., Nakamoto, Y., Matsuki, N., Takahashi, K., Fujita, M., Uchida, K., Yamato, O. :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013. Pubmed reference: 24386203. DOI: 10.1371/journal.pone.0083455.
2004 Satoh, H., Yamato, O., Asano, T., Yamasaki, M., Maede, Y. :
Increased concentration of GM1-ganglioside in cerebrospinal fluid in dogs with GM1- and GM2-gangliosidoses and its clinical application for diagnosis. J Vet Diagn Invest 16:223-6, 2004. Pubmed reference: 15152837.
Yamato, O., Satoh, H., Matsuki, N., Ono, K., Yamasaki, M., Maede, Y. :
Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid. J Vet Diagn Invest 16:39-44, 2004. Pubmed reference: 14974845. DOI: 10.1177/104063870401600107.
1991 Rotmistrovsky, R.A., Alcaraz, A., Cummings, J.C., de Lahunta, A., Farmer, S.F. :
GM2 gangliosidosis in a mixed-breed dog Progress in Veterinary Neurology 2:203–208 , 1991.
1984 Eto, Y., Autilio-Gambetti, L., McGrath, JT. :
Canine GM2-gangliosidosis: chemical and enzymatic features. Adv Exp Med Biol 174:431-40, 1984. Pubmed reference: 6234761.
1973 Karbe, E. :
Animal model of human disease Gm2-gangliosidoses (amaurotic idiocies) types I, II, and 3. Am J Pathol 71:151-4, 1973. Pubmed reference: 4121750.
1970 Bernheimer, H., Karbe, E. :
[Morphological and neurochemical investigations of two types of amaurotic idiocy in the dog: Evidence of a GM2- gangliosidosis.] Morphologische und neurochemische Untersuchungen von 2 Formen der amaurotischen Idiotie des Hundes: Nachweis einer GM2- Gangliosidose. Acta Neuropathologia 16:243-261, 1970. Pubmed reference: 5478213.
Gambetti, L.A., Kelly, A.M., Steinberg, S.A. :
Biochemical studies in a canine gangliosidosis Journal of Neuropathology and Experimental Neurology 29:137-138, 1970.
1967 Karbe, E., Schiefer, B. :
Familial amaurotic idiocy in male German Shorthair Pointers Pathologia Veterinaria 4:223-232, 1967. Pubmed reference: 5624869.

Edit History


  • Created by Frank Nicholas on 14 Jul 2011
  • Changed by Frank Nicholas on 08 Jul 2012