{"topic_id":"companion_breed_health_domestic_shorthair_omia724_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_domestic_shorthair_omia724_cat\ncategory: companion-breed-health\ntitle: \"Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/domestic_shorthair_omia724_724.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 110\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_domestic_shorthair_omia724_cat/01_companion_breed_health_domestic_shorthair_omia724_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000419/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Domestic Shorthair (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `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.`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 389718049 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Rakib et al. (2023): \"A homozygous missense mutation (GAA:c.1799G&gt;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)\".\n\n## Evidence (references)\nDerived 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.\n- 1988. Chromosomal mapping of lysosomal enzyme structural genes in the domestic cat. Genomics — PubMed:PMID3220474 — OMIA Phene_Article / Article\n- 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\n- 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\n- 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\n- 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\n- 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\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:232300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606800 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Domestic Shorthair — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/3220474/","retrieved":"","ref":"PMID 3220474","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":783,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}