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Von Willebrand Disease I

Von Willebrand Disease I (vWD I) is an inherited bleeding disorder in dogs caused by a deficiency of the von Willebrand factor, which is crucial for blood clotting.

Affected Genes: VWF

Inheritance: Autosomal Recessive

Variant(canFam6):
chr27:7662568: C>T

Breed: Aussiedoodle
Australian Cobberdog
Australian Labradoodle
Australian Shepherd
Barbet
Bernedoodle*
Bernese Mountain Dog
Bordoodle
Brazilian Terrier
Cardigan Welsh Corgi
Carolina Dog
Cavapoo
Cavapoochon
Cockapoo
Coton de Tulear
Danoodle
Doberman Pinscher
Drentsche Patrijshond
Dutch Partridge Dog
Dutch Shepherd
French Water Dog
German Pinscher
Goldendoodle
Havanese
Irish Red and White Setter
Irish Setter
Irishdoodle
Kerry Blue Terrier
Kromfohrländer
Labradoodle
Maltipoo
Manchester Terrier
Miniature American Shepherd
Miniature Australian Shepherd
Miniature Poodle
Newfypoo*
Papillon
Pembroke Welsh Corgi
Phalene
Pomeranian
Pomsky
Poodle
Schnoodle
Sheepadoodle
Stabyhoun
Standard Poodle
Toy Australian Shepherd
Toy Manchester Terrier
Toy Poodle
West Highland White Terrier
Yorkiepoo

General Information: Von Willebrand Disease I (vWD I) is a hereditary bleeding disorder that affects a wide range of dog breeds, most notably Doberman Pinschers. This condition results from a deficiency in the von Willebrand factor (vWF), an essential protein that aids in blood clotting at injury sites. Dogs with vWD I typically have less than half of the normal vWF levels, which leads to a range of bleeding issues. Common symptoms include easy bruising, frequent nosebleeds, bleeding from the mouth during the loss of juvenile teeth, and prolonged bleeding following surgery or trauma. The severity of symptoms varies, and while some dogs may only exhibit mild signs, others may suffer more severe bleeding that can be life-threatening. Despite these challenges, most dogs with vWD I can lead a normal lifespan, provided that veterinary care, including access to blood transfusions during surgeries, is readily available.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the VWF gene identifies whether a dog carries the mutation responsible for von Willebrand Disease I, which is inherited in an autosomal recessive manner. This means a dog must inherit two copies of the mutated gene, one from each parent, to be affected by the disease. Dogs that carry one copy of the mutation typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected by vWD I and a 50% chance of being a carrier. Genetic testing is crucial for responsible breeding practices, as it allows breeders to avoid pairing two carriers, thereby reducing the risk of producing affected pups. By ensuring that only non-carriers are bred, the mutation can be eliminated from breeding lines, safeguarding future generations from this bleeding disorder.

References:
Brooks MB, Erb HN, Foureman PA, Ray K. von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers. Am J Vet Res. 2001 62(3):364-369.

Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 2016 11(8):e0161005.

Segert JH, Seidel J, Werzer WJ, Geretschlaeger AM. vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed. Canine Genet Epidemiol. 2019 6:3.

Shaffer LG, Ramirez CJ, Sundin K, Carl C, Ballif BC (2015) Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond. Vet Rec Case Rep. 3:e000185.