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 myopathy
Mode of inheritance: Probably autosomal recessive
Clin 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: yes
Pathology: Blake et al. (2025): histologically, both cases were characterized by severe myocardial degeneration and necrosis with 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."

Basset Hound — glycogen storage disease myopathy (hereditary; OMIA-verified breed predisposition)