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OMIA:000420-9615 : Glycogen storage disease IV in Canis lupus familiaris (dog)

In other species: domestic cat , horse

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 232500 (trait) , 607839 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Disease-related: yes

Cross-species summary: Glycogen storage disease caused by glycogen branching enzyme (GBE) deficiency

Clinical features: Jolly et al. (2002) reported that "The nature, distribution and histochemistry of lesions observed [in a mixed-breed dog] are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs."

Breed: Mixed Breed (Dog) (VBO_0200902).
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. (2020). OMIA:000420-9615: 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.

2020 Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. :
Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621.
2002 Jolly, R.D., Hill, F.I., Hill, J.A., Mehrtens, G.N., Davey, P.M., Hopcroft, D.H. :
Polyglucosan body disease in a mixed-breed dog. N Z Vet J 50:32-5, 2002. Pubmed reference: 16032207. DOI: 10.1080/00480169.2002.36247.

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  • Created by Frank Nicholas on 15 Oct 2020