OMIA:000420-9685 : Glycogen storage disease IV in Felis catus |
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232500 (trait) , 607839 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2007
Cross-species summary: Glycogen storage disease caused by glycogen branching enzyme (GBE) deficiency
Species-specific symbol: GSD IV
Molecular basis: As reported by Fyfe et al. (2007), "Affected cats are homozygous for a complex rearrangement of genomic DNA in GBE1, constituted by a 334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2kb ins334 bp), removing exon 12."
Clinical features: Fyfe et al. (2007) created an "outbred GSD IV breeding colony derived from a purebred GSD IV carrier related to the originally reported [Fyfe et al., 1992] affected NFCs [Norwegian Forest cats]." The authors "report that while most affected kittens die at or soon after birth, presumably due to hypoglycemia, survivors of the perinatal period appear clinically normal until onset of progressive neuromuscular degeneration at 5 months of age."
Breed: Norwegian Forest Cat (Cat) (VBO_0100178).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GBE1 | glucan (1,4-alpha-), branching enzyme 1 | Felis catus | C2 | NC_058376.1 (34811042..34520402) | GBE1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 742 | Norwegian Forest Cat (Cat) | Glycogen storage disease IV | GBE1 | delins, gross (>20) | Naturally occurring variant | Felis_catus_9.0 | C2 | g.34744479_34781895delinsN[334] | published as "334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2kb ins334 bp), removing exon 12" | 2007 | 17257876 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000420-9685: 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. | |
| 2007 | Fyfe, JC., Kurzhals, RL., Hawkins, MG., Wang, P., Yuhki, N., Giger, U., Van Winkle, TJ., Haskins, ME., Patterson, DF., Henthorn, PS. : |
| A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol Genet Metab 90:383-92, 2007. Pubmed reference: 17257876 . DOI: 10.1016/j.ymgme.2006.12.003. | |
| 1996 | Coates, J.R., Paxton, R., Cox, N.R., Braund, K.G., Steiss, J.E., Baker, H.J., Simpson, S.T. : |
| A case presentation and discussion of type IV glycogen storage disease in a Norwegian forest cat Progress in Veterinary Neurology 7:5-11, 1996. | |
| 1992 | Fyfe, J.C., Giger, U., Vanwinkle, T.J., Haskins, M.E., Steinberg, S.A., Wang, P., Patterson, D.F. : |
| Glycogen storage disease type-IV - Inherited deficiency of branching enzyme activity in cats. Pediatric Research 32:719-725, 1992. Pubmed reference: 1337588 . |
Edit History
- Created by Frank Nicholas on 17 Aug 2007
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Imke Tammen2 on 27 May 2023