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Boykin Spaniel — Von Willebrand disease II (hereditary; OMIA-verified breed predisposition)

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--- license: permission_granted topic_id: companion_breed_health_boykin_spaniel_omia2650_dog category: companion-breed-health title: "Boykin Spaniel — Von Willebrand disease II (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/boykin_spaniel_omia2650_2650.txt date_parsed: 2026-08-02 tokens_estimated: 263 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_boykin_spaniel_omia2650_dog/01_companion_breed_health_boykin_spaniel_omia2650_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: "Boykin Spaniel — Von Willebrand disease II (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001339/9615/" 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

Boykin Spaniel — Von Willebrand disease II (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: Boykin Spaniel (Dog)
  • Disorder:
  • Mode of inheritance: Autosomal
  • Summary: see also a href=../../../../../../OMIA001057/9615/OMIA:001057-9615/a : Von Willebrand disease I in Canis lupus familiaris, a href=../../../../../../OMIA001058/9615/OMIA:001058-9615/a : Von Willebrand disease III in Canis lupus familiaris and a href=../../../../../../OMIA001056/9615/OMIA:001056-9615/a : Von Willebrand disease, generic in Canis lupus familiaris
  • Defect: yes
  • Prevalence: Vos-Loohuis et al. (2017) reported that the c.1657G allele fully segregates with the c.4937G allele and VWD in the GSP breed as it does in the GWP breed. . . . that the c.4937G variant but not the c.1657G allele is present in the Chinese Crested dog breed. Of the 41 tested dogs of this breed, 14 were carriers and three were homozygous for the c.4937G allele. Owners of the Chinese Crested dogs that were homozygous for this variant were contacted, and none of the dogs had signs of a bleeding disorder.

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: F8VWF (Entrez Gene ID 399544) — OMIA Phene_Gene / GeneSynonym
  • OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Kramer et al. (2004) showed that a likely causal variant for this disorder in German Shorthaired Pointers is a base substitution in exon 28 of the VWF gene (c.4937A&gt;G; p.Asn1646Ser). Vos-Loohuis et al. (2017) reported that the most likely causal variant for this disorder in a …

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.

  • 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article
  • 1999. A review of canine inherited bleeding disorders: Biochemical and molecular strategies for disease characterization and carrier detection. J Hered — PubMed:PMID9987916 | DOI:10.1093/jhered/90.1.112 — OMIA Phene_Article / Article
  • 2001. Canine von Willebrand's disease type 2 in German wirehair pointers in the Netherlands. Veterinary Record — PubMed:PMID12503596 — OMIA Phene_Article / Article
  • 2004. A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs. Vet Pathol — PubMed:PMID15133170 | DOI:10.1354/vp.41-3-221 — OMIA Phene_Article / Article
  • 2012. Estimated prevalence of canine Type 2 Von Willebrand disease in the Deutsch-Drahthaar (German Wirehaired Pointer) in Europe. Res Vet Sci — PubMed:PMID22824509 | DOI:10.1016/j.rvsc.2012.06.010 — OMIA Phene_Article / Article
  • 1996. von Willebrand's disease in the dog and cat. Vet Clin North Am Small Anim Pract — PubMed:PMID8863392 | DOI:10.1016/s0195-5616(96)50057-4 — OMIA Phene_Article / Article
  • 1992. Management of canine von Willebrand's disease. Probl Vet Med — PubMed:PMID1472774 — OMIA Phene_Article / Article
  • 2016. Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies. J Thromb Haemost — PubMed:PMID26924758 | DOI:10.1111/jth.13301 — OMIA Phene_Article / Article
  • 2017. A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Anim Genet — PubMed:PMID28696025 | DOI:10.1111/age.12544 — OMIA Phene_Article / Article
  • 1996. Severe, recessive von Willebrand's disease in German Wirehaired Pointers. J Am Vet Med Assoc — PubMed:PMID8790542 — OMIA Phene_Article / Article
  • 1996. Plasma von Willebrand factor antigen concentration as a predictor of von Willebrand's disease status in German Wirehaired Pointers. J Am Vet Med Assoc — PubMed:PMID8790543 — OMIA Phene_Article / Article
  • 2006. Development of a collagen-binding activity assay as a screening test for type II von Willebrand disease in dogs. Am J Vet Res — PubMed:PMID16454628 | DOI:10.2460/ajvr.67.2.242 — OMIA Phene_Article / Article
  • (5 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:613554 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:613160 (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

Boykin Spaniel — Von Willebrand disease II (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 8128434

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