--- license: permission_granted topic_id: companion_breed_health_norwegian_forest_cat_omia728_cat category: companion-breed-health title: "Norwegian Forest Cat — Glycogen storage disease IV (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/norwegian_forest_cat_omia728_728.txt date_parsed: 2026-08-02 tokens_estimated: 159 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_norwegian_forest_cat_omia728_cat/01_companion_breed_health_norwegian_forest_cat_omia728_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: "Norwegian Forest Cat — Glycogen storage disease IV (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000420/9685/" 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
Norwegian Forest Cat — Glycogen storage disease IV (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: Norwegian Forest Cat (Cat)Disorder:Mode of inheritance: Autosomal recessiveClin feat: 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.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 493962 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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 [omia.variant:742]), removing exon 12."
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.
- 1992. Glycogen storage disease type-IV - Inherited deficiency of branching enzyme activity in cats. Pediatr Res — PubMed:PMID1337588 | DOI:10.1203/00006450-199212000-00020 — OMIA Phene_Article / Article
- 1996. A case presentation and discussion of type IV glycogen storage disease in a Norwegian forest cat. Progress in Veterinary Neurology — OMIA Phene_Article / Article
- 2007. 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 — PubMed:PMID17257876 | DOI:10.1016/j.ymgme.2006.12.003 — 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
- 2022. Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet — PubMed:PMID35709088 | DOI:10.1371/journal.pgen.1009804 — 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:232500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607839 (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."