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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
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.

Breed Carrier frequency n tested
Dobermann Pinscher 36.5% 2,218
Kromfohrlander 18.8% 197
Schipperke 11.1% 72
Pembroke Welsh Corgi 9.0% 4,371
Pomeranian 8.5% 5,294
Barbet 7.1% 106
Papillon 6.9% 197
Cairn Terrier 5.7% 183
Keeshond 4.3% 70
Dutch Shepherd Dog 3.9% 64
Coton De Tulear 2.4% 104
Pug 2.1% 5,154
Maltese 2.0% 2,413
Boerboel 2.0% 165
Poodle Standard 2.0% 4,202
Cardigan Welsh Corgi 2.0% 125
Chihuahua 2.0% 4,273
American Eskimo Dog 2.0% 302
English Springer Spaniel 2.0% 751
Australian Shepherd 2.0% 2,296
Bernese Mountain Dog 2.0% 955
Australian Kelpie 2.0% 104
Yorkshire Terrier 2.0% 8,367
Great Dane 2.0% 3,266
Boston Terrier 2.0% 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 n tested
Stabyhoun 33.3% 27
Terrier Brazileiro 20.0% 5
German Spitz 16.7% 3
Kerry Blue Terrier 14.3% 7
Prague Ratter 14.3% 7
Continental Toy Spaniel 12.5% 8
Volpino Italiano 11.8% 17
Manchester Terrier Toy 8.3% 12
Silky Terrier 7.1% 28
Puli 4.2% 12
German Pinscher 2.0% 30
Lacy Dog 2.0% 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. 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

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:

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

Related

Related

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