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Canine Mendelian disease record

Von Willebrand's Disease, Type 2 (vWD 2)

Von Willebrand's Disease, Type 2 (vWD 2). Autosomal recessive. Observed in 1 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,662 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier
OMIA:001339-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human von Willebrand disease 2

Dogs with this condition carry a change in VWF. In people, changes in the same gene cause von Willebrand disease 2. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).

In humans it is also called: VWD2, von Willebrand disease type 2, VON WILLEBRAND disease, type 2, von Willebrand disease, types 2A, 2B, 2M, and 2N, von willebrand's disease 2.

MONDO:0013304 OMIM 613554

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

see also OMIA:001057-9615 : Von Willebrand disease I in Canis lupus familiaris, OMIA:001058-9615 : Von Willebrand disease III in Canis lupus familiaris and OMIA:001056-9615 : Von Willebrand disease, generic in Canis lupus familiaris

Molecular genetics

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>G; p.Asn1646Ser). Vos-Loohuis et al. (2017) reported that the most likely causal variant for this disorder in a German Wirehaired Pointer is another missense variant c.1657T>G; p.Trp553Gly. They also reported that "Based on the polyphen-2 predictions and the observation that only the c.1657G (p.553Gly) variant is exclusively found in the homozygous state in GWP and GSP dogs that are affected by VWD, we suggest that this mutation is a primary candidate causal mutation for the disease in the breeds."

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."

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 613554 Gene · OMIM 613160

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001339-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 17.

  1. Clinical assessment of primary hemostasis: A review. · Top Companion Anim Med · 2023 · PMID 37673175

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Von Willebrand's Disease, Type 2 (vWD 2) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A
Parent B
NNClear
NmCarrier
NmCarrier
mmAffected
Clear25%
Carrier50%
Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
Your breed

See what Von Willebrand's Disease, Type 2 (vWD 2) looks like in your dog's breed.
Carrier frequency by breed

Top 1 well-sampled breeds (n ≥ 50)

Maximum per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%
German Shorthaired Pointer0.44% · n 1,252
n = 1,252 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Von Willebrand's Disease, Type 2 (vWD 2) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
German Shorthaired Pointer 0.44% 1,252

265 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001339-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001339-9615 · Donner et al. 2023