Cat (Felis catus) — Glycogen storage disease II (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Species: Cat (Felis catus)
Disorder: Glycogen storage disease II
Clin feat: 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."

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: Entrez Gene ID 389718049 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Rakib et al. (2023): "A homozygous missense mutation (GAA:c.1799G>A, p.R600H [omia.variant:1544]) 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)".

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

1988. Chromosomal mapping of lysosomal enzyme structural genes in the domestic cat. Genomics — PubMed:PMID3220474 — OMIA Phene_Article / Article
1993. Molecular biology, therapeutic trials and animal models of lysosomal storage diseases - Type-II glycogenosis as an example. Annales de Biologie Clinique — OMIA Phene_Article / Article
2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
2021. Glycogen storage disease in a young cat with heart failure. J Vet Intern Med — PubMed:PMID34939226 | DOI:10.1111/jvim.16339 — OMIA Phene_Article / Article
2023. Novel mutation in the feline GAA gene in a cat with glycogen storage disease type II (Pompe disease). Animals (Basel) — PubMed:PMID37106898 | DOI:10.3390/ani13081336 — OMIA Phene_Article / Article
2025. Molecular screening of feline glycogen storage disease type II (Pompe disease): Allele frequencies of the GAA:c.1799G>A and c.55G>A variants. Genes (Basel) — PubMed:PMID40869986 | DOI:10.3390/genes16080938 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

OMIM:232300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:606800 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Cat (Felis catus) — Glycogen storage disease II (hereditary; OMIA-verified species predisposition)