How is Von Willebrand's Disease, Type 1 (vWD 1) inherited in dogs?

Von Willebrand's Disease, Type 1 (vWD 1) follows a Autosomal recessive inheritance pattern. It has been observed in 60 of 266 breeds screened in the Sniff Atlas.

What is the human equivalent of Von Willebrand's Disease, Type 1 (vWD 1)?

OMIA links Von Willebrand's Disease, Type 1 (vWD 1) to its human counterpart in OMIM (OMIM 193400), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Von Willebrand's Disease, Type 1 (vWD 1) in dogs?

OMIA curates 34 peer-reviewed references for Von Willebrand's Disease, Type 1 (vWD 1), including the landmark study "Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders.". The full, linked citation list is on this page.

Canine Mendelian disease record

Von Willebrand's Disease, Type 1 (vWD 1)

Von Willebrand's Disease, Type 1 (vWD 1). Autosomal recessive. Observed in 60 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,661 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:001057-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human von Willebrand disease 1

Dogs with this condition carry a change in VWF. In people, changes in the same gene cause von Willebrand disease 1. 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 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

In humans it is also called: VWD1, von Willebrand disease type 1, VON WILLEBRAND disease, type 1, von willebrand's disease 1, von Willebrand's disease type 1.

MONDO:0008668 OMIM 193400

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

The von Willebrand factor (vWF) is a large multimeric plasma glycoprotein required for platelet adhesion and aggregation. A deficiency or defective vWF results in von Willebrand disease (vWD). vWD are often classified in 3 different types based on the clinical severity and quantity and multimere size of von Willebrand factor. Type I is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms. Type II disorder is characterised by qualitative abnormalities of the vWF protein and moderate to severe bleeding. Type III is the most severe form of vWD with no detectable or a severe quantitative deficiency of vWF.

Clinical features

Type I von Willebrand disease involves a quantitative partial deficiency of von Willebrand factor, which is a protein involved in blood clotting (Boudreaux, 2012). Clinical features can be characterised as increased bleeding tendency. However, this can be variable. Excessive prolonged bleeding from minor wounds, tooth eruptions, heat or surgical incision are observed in clinically affected dogs with low vWF (Barr & McMichael, 2012; Dodds, 1984). Sudden gingival bleeding, epistaxis, gastrointestinal bleeding, haematuria, subcutaneous haematomas, petechiae can also occur (Thomas, 1996). VWD poses a significant risk in surgery or trauma, where clotting function is very important (Thomas, 1996). Treatment of affected dogs is possible (Thomas, 1996). [IT thanks DVM students MacKenzie Anderson and Jesse Wong, who provided the basis of this contribution in April 2022]

Molecular genetics

As reported by Boudreaux (2012), a likely causal mutation for this disorder in Doberman Pinchers was reported in US Patent 6074832, submitted by Brewer et al. (Michigan State University) in 2000. According to the patent, the actual mutation is a synonymous base substitution at nucleotide 7437 in exon 43 (Ser 2479) of the VWF gene, which decreases the effectiveness of a splice site. Gentilini and Turba (2013) provided details of the mutation: it is "a G → A transversion of the last nucleotide of von Willebrand factor (vWf) exon 43 (c.7437G > A, NM_001002932.1) . . . [which] activates a cryptic splice site a few nucleotides upstream of the normal splice site, leading to a frame shift that results in the formation of a truncated protein of 119 amino acids". Donner et al. (2016) reported the presence and/or carrier frequency of the c.7437A variant in the following breeds: Doberman, Manchester Terrier, Bernese Mountain Dog, Barbet, Brazilian Terrier, Coton de Tulear, Kromfohrländer, Dutch Shepherd dog - longhaired. Crespi et al. (2018) reported that the c.7437A variant is only partially associated with the disorder in the Doberman Pinscher breed in Argentina: only 40% of homozygotes and 22% of heterozygotes for the variant showed clinical signs. Segert et al. (2019) reported similar results for the Kromfohrländer breed: only 46% of homozygotes and 23% of heterozygotes for the c.7437A variant showed clinical signs. Segert et al. (2019) also reported that the variant locus shows a significant effect on vWF concentration: "VWF serum concentrations varied from 28 to 137% in wild-type dogs while in heterozygous and homozygous dogs the concentration ranged from 3 to 77% and 1 to 23%, respectively (p < 0.05)".

Pathology

Platelet count, prothrombin and partial thromboplastin times are usually normal in dogs with vWDI (Burgess et al., 2009). Buccal mucosal bleeding time (BMBT) can be used to determine haemostatic ability. A positive BMBT can indicate vWDI but requires further coagulative tests as it can be present with other coagulopathies. BMBT can also be normal in mild cases (Thomas, 1996). A decreased level of vWF is detected in a vWF:Ag assay with abnormal values of <50% and values of <35% at notable risk of bleeding. vWD dogs will have normal to slightly elevated vWF antigen to collagen binding activity ratios (Burgess et al., 2009). [IT thanks DVM student Jesse Wong, who provided the basis of this contribution in April 2022]

Inheritance

Dodds (1984) and Segert et al. (2019) report the mode of inheritance as autosomal dominant with incomplete penetrance in Doberman Pinscher and Kromfohrländer. In other breeds a recessive mode of inheritance has been proposed (Segert et al. 2019).

Control

Use of DNA diagnostics as a sole diagnostic tool for vWDI is not advised as the c.7437A variant has been reported to be only partially associated with the disorder in the Doberman Pinscher breed and the Kromfohrländer breed (incomplete penetrance). Quantification of plasma vWF and in vivo and in vitro tests of vWF-dependent platelet function should be used to diagnose the disease and results from such tests may inform future breeding decissions. This may include von Willebrand factor (vWF) antigen (Ag) test, vwF collagen binding assay, buccal mucosal bleeding time (BMBT), complete blood count (CBC), prothrombin (PT) and partial thromboplastin times (PTT), platelet function analysis (PFA-100) (Thomas, 1996; Burgess et al., 2009) [IT thanks DVM student Jesse Wong, who provided the basis of this contribution in April 2022]

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 193400 Gene · OMIM 613160

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001057-9615, 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 34.

★
Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. · PLoS One · 2016 · PMID 27525650
Why is this an OMIA Landmark paper? It is "the first large scale report of DNA panel screening across purebred dogs to date", involving the genotyping of 6,788 dogs from 233 breeds for 93 disease-implicated variants across 80 single-locus disorders, providing a very informative "snapshot" of the distribution and frequency of these variants. Importantly, the results indicated "15 risk variants in a total of 34 breeds in which their presence was previously undocumented", which will be very helpful in the provision of genetic counselling in those breeds. The detection of some of these latter variants led to "plausible molecular explanations" for disorders in some breeds.
Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. · Anim Genet · 2025 · PMID 40965331
Clinical assessment of primary hemostasis: A review. · Top Companion Anim Med · 2023 · PMID 37673175
Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing. · Gene · 2023 · PMID 36427679
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Late recanalization after complete occlusion of patent ductus arteriosus in a Pembroke Welsh Corgi with von Willebrand disease. · Vet Med Sci · 2022 · PMID 34538019

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 1 (vWD 1) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

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 1 (vWD 1) looks like in your dog's breed.

Carrier frequency by breed

Top 25 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. 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%25%50%

Dobermann Pinscher36.5% · n 2,218

36.5%n 2,218

Kromfohrlander18.8% · n 197

18.8%n 197

Schipperke11.1% · n 72

11.1%n 72

Pembroke Welsh Corgi9.0% · n 4,371

9.0%n 4,371

Pomeranian8.5% · n 5,294

8.5%n 5,294

Barbet7.1% · n 106

7.1%n 106

Papillon6.9% · n 197

6.9%n 197

Cairn Terrier5.7% · n 183

5.7%n 183

Keeshond4.3% · n 70

4.3%n 70

Dutch Shepherd Dog3.9% · n 64

3.9%n 64

Coton De Tulear2.4% · n 104

2.4%n 104

Pug2.1% · n 5,154

2.1%n 5,154

Maltese2.0% · n 2,413

2.0%n 2,413

Boerboel1.2% · n 165

1.2%n 165

Poodle Standard1.1% · n 4,202

1.1%n 4,202

n = 24,810 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 1 (vWD 1) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Dobermann Pinscher	36.5%	[34.5%, 38.5%]	2,218
Kromfohrlander	18.8%	[13.9%, 24.8%]	197
Schipperke	11.1%	[5.7%, 20.4%]	72
Pembroke Welsh Corgi	9.0%	[8.1%, 9.8%]	4,371
Pomeranian	8.5%	[7.8%, 9.3%]	5,294
Barbet	7.1%	[3.6%, 13.6%]	106
Papillon	6.9%	[4.1%, 11.3%]	197
Cairn Terrier	5.7%	[3.2%, 10.1%]	183
Keeshond	4.3%	[1.5%, 11.9%]	70
Dutch Shepherd Dog	3.9%	[1.2%, 11.8%]	64
Coton De Tulear	2.4%	[0.7%, 7.5%]	104
Pug	2.1%	[1.7%, 2.5%]	5,154
Maltese	2.0%	[1.5%, 2.7%]	2,413
Boerboel	1.2%	[0.3%, 4.3%]	165
Poodle Standard	1.1%	[0.8%, 1.5%]	4,202
Cardigan Welsh Corgi	0.80%	[0.1%, 4.4%]	125
Chihuahua	0.69%	[0.5%, 1.0%]	4,273
American Eskimo Dog	0.66%	[0.2%, 2.4%]	302
English Springer Spaniel	0.60%	[0.2%, 1.5%]	751
Australian Shepherd	0.59%	[0.3%, 1.0%]	2,296
Bernese Mountain Dog	0.58%	[0.3%, 1.3%]	955
Australian Kelpie	0.48%	[0.1%, 4.4%]	104
Yorkshire Terrier	0.38%	[0.3%, 0.5%]	8,367
Great Dane	0.32%	[0.2%, 0.6%]	3,266
Boston Terrier	0.26%	[0.1%, 0.5%]	3,702

Top 25 of 48 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 12 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed	Estimate	Wilson 95% CI	n tested
Stabyhoun	33.3%	[18.6%, 52.2%]	27
Terrier Brazileiro	20.0%	[3.6%, 62.4%]	5
German Spitz	16.7%	[1.8%, 69.0%]	3
Kerry Blue Terrier	14.3%	[2.6%, 51.3%]	7
Prague Ratter	14.3%	[2.6%, 51.3%]	7
Continental Toy Spaniel	12.5%	[2.2%, 47.1%]	8
Volpino Italiano	11.8%	[3.3%, 34.3%]	17
Manchester Terrier Toy	8.3%	[1.5%, 35.4%]	12
Silky Terrier	7.1%	[2.0%, 22.6%]	28
Puli	4.2%	[0.4%, 30.1%]	12
German Pinscher	1.7%	[0.2%, 14.1%]	30
Lacy Dog	1.6%	[0.2%, 13.3%]	32

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

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated: 33
Phenotype confirmed: 6
Penetrance range: 18% to 18%

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

How to cite this record

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:001057-9615.
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.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001057-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001057-9615 · Donner et al. 2023