--- license: permission_granted topic_id: companion_breed_health_great_pyrenees_omia650_dog category: companion-breed-health title: "Great Pyrenees — Factor XI deficiency (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/great_pyrenees_omia650_650.txt date_parsed: 2026-08-02 tokens_estimated: 187 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_great_pyrenees_omia650_dog/01_companion_breed_health_great_pyrenees_omia650_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: "Great Pyrenees — Factor XI deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000363/9615/" 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
Great Pyrenees — Factor XI deficiency (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: Great Pyrenees (Dog)Disorder:Mode of inheritance: AutosomalClin feat: Congenital Factor XI deficiency is characterised by abnormal haemostasis and excessive bleeding, usually following trauma or surgery. Clinical signs of abnormal haemostasis and excessive bleeding include bruising, epistaxis, and menorrhagia (Fogh and Fogh, 1988). Affected dogs have significantly decreased Factor XI activity levels (less than 10%), heterozygous/carrier dogs have decreased Factor XI activity levels, (25-50%) but appear to be asymptomatic (Fogh and Fogh, 1988). IT thanks DVM student Su Han Thia, who provided the basis of this contribution in May 2023.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 3476214 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: A molecular basis for this disorder was first reported by Tcherneva et al. (2007): "the 7th coding exon differs between normal and affected animals. It is normally 110 bp long, but in affected KBTs it contains a short interspersed nucleotide element (SINE) insertion. This exonic SINE is 90 bp long, consisting mostly of adenines coding for lysine which is presumed to affect the 3rd apple domain of …
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.
- 1994. Factor XI deficiency in Kerry Blue Terriers. Journal of the American Veterinary Medical Association — PubMed:PMID7730123 — OMIA Phene_Article / Article
- 2006. Coagulation factor XI deficiency in Kerry blue terrier dogs is caused by an exonic sine insertion. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article
- 1971. Canine factor XI (plasma thromboplastin antecedent) deficiency. J Lab Clin Med — PubMed:PMID5166932 — OMIA Phene_Article / Article
- 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article
- 1974. Hereditary and acquired hemorrhagic disorders in animals. Prog Hemost Thromb — PubMed:PMID4604529 — OMIA Phene_Article / Article
- 2007. Molecular base of coagulation factor XI deficiency in Kerry Blue terrier. Bulgarian Journal of Veterinary Medicine — OMIA Phene_Article / Article
- 2009. Factor XI deficiency in animal models. J Thromb Haemost — PubMed:PMID19630774 | DOI:10.1111/j.1538-7836.2009.03393.x — 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:264900 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612416 (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."