OMIA:000419-9685 : Glycogen storage disease II in Felis catus
In other species: dog , taurine cattle , sheep , Japanese quail
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232300 (trait) , 606800 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Also called Pompe disease, Pompe's disease, acid maltase deficiency, and generalised glycogenesis type II. A lysosomal storage disease in which there is a buildup (storage) of glycogen, due to the lack of the enzyme alpha-glucosidase, whose task is to break down glycogen into its constituent glucose molecules. Characterised by poor growth, incoordination, muscle weakness and eventual recumbency.
Molecular basis: Rakib et al. (2023): "A homozygous missense mutation (GAA:c.1799G>A, p.R600H) was identified as a candidate pathogenic mutation" in "an eight-month-old domestic short-haired cat" . . . "All control samples [100 clinically healthy cats] were homozygous for the wild-type genotype (c.1799G/G), whereas only the cat with PD was homozygous for the mutant genotype (c.1799A/A)".
Clinical features: Rakib et al. (2023): "This is the first report of a cat with PD carrying the same mutation as reported in a case of human classical IOPD [infantile-onset PD]. The clinical and histological findings in this cat with PD were similar to those in humans with IOPD."
Breed: Domestic Shorthair.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GAA||glucosidase, alpha; acid||Felis catus||E1||NC_058381.1 (59327583..59343635)||GAA||Homologene, Ensembl , NCBI gene|
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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|
|1544||Domestic Shorthair||Glycogen Storage Disease Type II (Pompe Disease)||GAA||missense||Naturally occurring variant||Felis_catus_9.0||E1||g.60946737G>A||c.1799G>A||p.(R600H)||XM_006940651.4; XP_006940713.4||2023||37106898||The OMIA curators thank Osamu Yamato for providing the variant information not included in Rakib et al. (2023); 17 April 2023.|
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||Rakib, T.M., Islam, M.S., Tanaka, S., Yabuki, A., Pervin, S., Maki, S., Faruq, A.A., Tacharina, M.R., Yamato, O. :|
|Novel mutation in the feline GAA gene in a cat with glycogen storage disease type II (Pompe disease). Animals (Basel) 13:1336, 2023. Pubmed reference: 37106898 . DOI: 10.3390/ani13081336.|
|2021||Tanaka, S., Suzuki, R., Koyama, H., Machida, N., Yabuki, A., Yamato, O. :|
|Glycogen storage disease in a young cat with heart failure. J Vet Intern Med :, 2021. Pubmed reference: 34939226 . DOI: 10.1111/jvim.16339.|
|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.|
|1993||Reuser, A.J.J. :|
|Molecular biology, therapeutic trials and animal models of lysosomal storage diseases - Type-II glycogenosis as an example. Annales de Biologie Clinique 51:218-219, 1993.|
|1988||Gilbert, D.A., O'Brien, J.S., O'Brien, S.J. :|
|Chromosomal mapping of lysosomal enzyme structural genes in the domestic cat Genomics 2:329-336, 1988. Pubmed reference: 3220474 .|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 14 Jan 2022
- Changed by Frank Nicholas on 14 Apr 2023