--- license: permission_granted topic_id: companion_breed_health_basset_hound_glycogen_storage_disease_myopathy_dog category: companion-breed-health title: "Basset Hound — glycogen storage disease myopathy (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/basset_hound_glycogen_storage_disease_myopathy_6566.txt date_parsed: 2026-08-02 tokens_estimated: 151 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_basset_hound_glycogen_storage_disease_myopathy_dog/01_companion_breed_health_basset_hound_glycogen_storage_disease_myopathy_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Basset Hound — glycogen storage disease myopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA003010/9615/" 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
Basset Hound — glycogen storage disease myopathy (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: Basset Hound (Dog)Disorder: glycogen storage disease myopathyMode of inheritance: Probably autosomal recessiveClin feat: Blake et al. (2025) report two young adult Basset Hound (BH) littermates presenting with congestive heart failure, pelvic limb weakness, gastro-intestinal upset, and sudden death.Defect: yesPathology: Blake et al. (2025): histologically, both cases were characterized by severe myocardial degeneration and necrosis withnbsp; abundant cardiomyocyte intrasarcoplasmic glycogen accumulation.
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 398299046 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Blake et al. (2025) used whole genome sequencing of affected Basset hounds to identify a likely causal splice site donor variant in <em>RBCK1: C</em>FA24:20,935,568 (RBCK1:XM_038571894.1:c.1044+1G>T; omia.variant:1833).
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.
- 2025. Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy. Mol Genet Metab — PubMed:PMID40939526 | DOI:10.1016/j.ymgme.2025.109232 — 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:610924 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:615895 (type: trait) — 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."