--- license: permission_granted topic_id: companion_breed_health_english_springer_spaniel_hyperfibrinolysis_dog category: companion-breed-health title: "English Springer Spaniel — Hyperfibrinolysis (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_hyperfibrinolysis_6446.txt date_parsed: 2026-08-02 tokens_estimated: 122 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_springer_spaniel_hyperfibrinolysis_dog/01_companion_breed_health_english_springer_spaniel_hyperfibrinolysis_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 — Hyperfibrinolysis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002967/9615/" 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 — Hyperfibrinolysis (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: HyperfibrinolysisMode of inheritance: Autosomal recessiveClin feat: Kilpatrick et al. (2025) A 7-month-old female spayed English Springer Spaniel (ESS) was evaluated for spontaneous hemoperitoneum. Hyperfibrinolysis was identified on thromboelastography.nbsp; .... nbsp;Absence of PAI-1 in the proband's platelets was documented using LC–MS/MS.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 398299022 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kilpatrick et al. (2025) : "Whole genome sequencing of the [English Springer Spaniel, ESS] proband identified a unique homozygous insertion at chr6:8640592 [omia.variant:1812] in exon 1 of SERPINE1, which is predicted to cause a premature stop codon. The unaffected littermate was heterozygous for the mutation. Two unrelated ESS and 1 [Welsh Springer Spaniel] WSS with post-operative hemorrhage…
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 mutation in the SERPINE1 gene causing clinical hyperfibrinolysis in English Springer Spaniel dogs. J Vet Intern Med — PubMed:PMID40470612 | DOI:10.1111/jvim.70150 — 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:613329 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:173360 (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."