--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia724_cat category: companion-breed-health title: "Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/domestic_shorthair_omia724_724.txt date_parsed: 2026-08-02 tokens_estimated: 110 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia724_cat/01_companion_breed_health_domestic_shorthair_omia724_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000419/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Domestic Shorthair (Cat)Disorder:Mode of inheritance: Autosomal recessiveClin 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.Defect: yes
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)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."