--- license: permission_granted topic_id: companion_breed_health_english_springer_spaniel_omia5516_dog category: companion-breed-health title: "English Springer Spaniel — Long QT syndrome, KCNQ1-related (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/english_springer_spaniel_omia5516_5516.txt date_parsed: 2026-08-02 tokens_estimated: 123 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_springer_spaniel_omia5516_dog/01_companion_breed_health_english_springer_spaniel_omia5516_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: "English Springer Spaniel — Long QT syndrome, KCNQ1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002332/9615/" 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
English Springer Spaniel — Long QT syndrome, KCNQ1-related (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: English Springer Spaniel (Dog)Disorder:Mode of inheritance: Autosomal dominantClin feat: Ware et al. (2015): A 5-year-old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly. ... Three of 4 littermates examined ... had prolonged QT intervals with unique T-wave morphology.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 388250219 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Ware et al. (2015): "DNA sequencing of the KCNQ1 [functional candidate] gene identified a heterozygous single base pair mutation, unique to these 3 [affected English Springer Spaniel] dogs, which changes a conserved amino acid from threonine to lysine and is predicted to change protein structure."
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.
- 2023. The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract — PubMed:PMID37423841 | DOI:10.1016/j.cvsm.2023.05.016 — OMIA Phene_Article / Article
- 2015. Sudden death associated with QT interval prolongation and KCNQ1 gene mutation in a family of English Springer Spaniels. J Vet Intern Med — PubMed:PMID25779927 | DOI:10.1111/jvim.12550 — 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:192500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607542 (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."