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Airedale Terrier — Haemophilia B (hereditary; OMIA-verified breed predisposition)

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--- license: permission_granted topic_id: companion_breed_health_airedale_terrier_omia54_dog category: companion-breed-health title: "Airedale Terrier — Haemophilia B (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/airedale_terrier_omia54_54.txt date_parsed: 2026-08-02 tokens_estimated: 294 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_airedale_terrier_omia54_dog/01_companion_breed_health_airedale_terrier_omia54_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: "Airedale Terrier — Haemophilia B (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000438/9615/" 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

Airedale Terrier — Haemophilia B (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: Airedale Terrier (Dog)
  • Disorder:
  • Mode of inheritance: X-linked recessive
  • Clin feat: Haemophilia B is characterised by frequent and spontaneous bleeding into joints, muscles, and body cavities, such as the chest and abdomen, due to a deficiency in factor IX (FIX, F9) (Nichols et al., 2020). This can eventually lead to arthropathy associated with progressive cartilage damage, chronic pain, lameness, and eventually joint destruction (Nichols et al., 2020). Prolonged bleeding from minor wounds and haemorrhagic complications post-surgery may also be observed (Nichols et al., 2010). Disease can be classified into mild, moderate, or severe based on plasma FIX levels with 60-70% of patients having a moderate or severe form (Nichols et al., 2020). Animals with the severe form (lt;1% coagulation activity) can have bleeding episodes that are life threatening. Most carriers have a reduced FIX activity of 40-60% but do not exhibit spontaneous bleeding (Nakata et al., 2006). IT thanks DVM student Ruby Xu, 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 404015 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: The causative mutation for this disorder was discovered via the candidate gene approach, by Evans et al. (1989), who reported that the mutant allele in the Chapel Hill Cairn Terrier colony is c.1477G&gt;A, resulting in the substitution of glutamic acid for glycine at codon 379 in the factor-IX peptide. This particular site has been highly conserved throughout evolution: there is a glycine at this …

Causal variant(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.

  • Variant: chromosome A3; nt change XM_006929856.5:c.1000G>A; protein XP_006929918.1:p.(A334T); dbSNP rs5334475117; pathogenicity class 1 — OMIA Variant / Variant_Phene

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.

  • 1960. Canine hemophilia B (Christmas disease). Br J Haematol — PubMed:PMID13727144 | DOI:10.1111/j.1365-2141.1960.tb06241.x — OMIA Phene_Article / Article
  • 1975. Hemophilia A and hemophilia B in a family of French bulldogs. Tijdschr Diergeneeskd — PubMed:PMID1209580 — OMIA Phene_Article / Article
  • 1962. A comparison of the effect of serum and plasma transfusions on the clotting defect in canine haemophilia B. British Journal of Haematology — PubMed:PMID14477606 — OMIA Phene_Article / Article
  • 1990. Phenotypic correction of factor IX deficiency in skin fibroblasts of hemophilic dogs. Proc Natl Acad Sci U S A — PubMed:PMID2367529 | DOI:10.1073/pnas.87.13.5173 — OMIA Phene_Article / Article
  • 1989. Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci U S A — PubMed:PMID2481310 | DOI:10.1073/pnas.86.24.10095 — OMIA Phene_Article / Article
  • 1991. A Young Male Mongrel with Haemophilia-B (Christmas Disease). Tijdschrift Voor Diergeneeskunde — PubMed:PMID2028457 — OMIA Phene_Article / Article
  • 1993. In Vivo Gene Therapy of Hemophilia-B - Sustained Partial Correction in Factor-IX-Deficient Dogs. Science — PubMed:PMID8211118 | DOI:10.1126/science.8211118 — OMIA Phene_Article / Article
  • 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article
  • 1994. In Vivo Hepatic Gene Therapy - Complete Albeit Transient Correction of Factor IX Deficiency in Hemophilia B Dogs. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID8134398 — OMIA Phene_Article / Article
  • 1994. Efficient Transfection of Primary Cells in a Canine Hemophilia-B Model Using Adenovirus Polylysine DNA Complexes. Human Gene Therapy — PubMed:PMID8018746 | DOI:10.1089/hum.1994.5.3-313 — OMIA Phene_Article / Article
  • 1995. Hemophilia B (factor IX deficiency) in a family of German Shepherd Dogs. Journal of the American Veterinary Medical Association — PubMed:PMID7790304 — OMIA Phene_Article / Article
  • 1996. Haemophilia B in a male mongrel dog - therapy of a haemorrhagic crisis with fresh frozen plasma [German]. Deutsche Tierarztliche Wochenschrift — PubMed:PMID8647012 — OMIA Phene_Article / Article
  • (74 additional references in OMIA)

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:306900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:300746 (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."

Sources

Airedale Terrier — Haemophilia B (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 13727144

Machine access

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