References and Links for the Breed, Genetic Conditions and Other Information

We feel that if you’re considering owning a Doberman you should understand the breed and the issues that go along with it. With that in mind we are starting a page with links to useful information to help in that endeavor. It’s a work in progress and will be updated as we accumulate more information to pass along

Cornell University College of Veterinary Medicine

von Willebrand disease

https://eclinpath.com/hemostasis/disorders/von-willebrands-disease/

Von Willebrand disease (vWD) is the most common inherited disorder of hemostasis in both humans and dogs. It is due to a deficiency or abnormality in von Willebrand factor (vWf).

Von Willebrand disease is inherited as an autosomal trait and is categorized into three types based on the amount and multimeric composition of the molecule.

  • Type I vWD: This is due to a deficiency in the amount of vWf. All multimers are present but in reduced amounts. This is the type reported in most breeds of dogs, including the Doberman. Bleeding is variable in this disorder and is dependent on the value of vWf:Ag and breed (as mentioned previously, Airedales have Type I vWD but rarely exhibit bleeding, in contrast to Dobermans, which also have type I vWD, but do bleed). In several breeds. the defect is thought to be due to a homozygous mutation in a splice site of the vWD gene.

Von Willebrand’s Disease in Dogs

By Krista Williams, BSc, DVM; Ernest Ward, DVM

https://vcahospitals.com/know-your-pet/von-willebrands-disease-in-dogs

At least thirty different breeds are affected, but the Doberman Pinscher is the breed with the highest incidence of vWD. Of 15,000 Dobermans screened in a research study, more than 70% were found to be carriers of the disease. Fortunately, most of these were not showing signs of the disease at the time of testing. However, the number of Dobermans with a history of bleeding appears to be on the rise. Although Dobermans are commonly affected, they usually have the mildest form of the disease. The average age at diagnosis for this breed is about four years of age.

DCM Webinar Dr. Karen Murers

DCM

Adapted from Animal Genetics UK Web Page

Dialted Cardiomyopathy (DCM) is a heart disease in which the heart becomes thinly walled, dilated, and ceases to contract properly which can result in congestive heart failure.

Additionally, the heart will often have scar tissue or fatty build-up. This interferes with the conduction of nerve signals and causes uncoordinated contractions dysrhythmia or arrhythmia.

The PDK4 gene mutation is associated with DCM1. A second mutation in the TITIN gene has been identified and is associated with DCM2. Both are autosomal dominant gene, meaning that only one copy of the mutation is needed to increase the risk of developing the disease. However, both show variable penetrance which means just having the defective gene does not mandate developing the disease. As with most genes there two copies of the gene that codes for this protein. Puppies get one copy from each parent. A dog with one normal and one abnormal gene is called heterozygosis for the trait. A dog with two copies is called homozygous for the trait. Both PDK4 (DCM1) and TITIN (DCM2) mutations can independently lead to the development of the disease (DCM) but, the risk is much greater when both mutations are present (DCM1 and DCM2) or when there are two defective copies of the same gene (DCM1/DCM1 or DCM2/DCM2)

Not all animals with the defective gene(s) will develop DCM due to the fact that there is variable penetrance of the trait (dogs do not show sign of the disease despite having a copy of the mutation).

While some dogs with one copy (carrier) will get the disease another major consideration in carriers relates to breeding. A carrier of either DCM1 or DCM2 should not be mated with another dog who has either defective genes.

Genetic testing verifies the DCM1 genotype and presents results as one of the following:

DCM1/DCM1At RiskThe dog has inherited two copies of the mutated gene and is homozygous for the mutation. The dog is at risk to develop the disorder during its lifetime. The dog will always pass a copy of the mutation to its offspring.
N/DCM1Carrier/Low RiskBoth the normal and mutant copies of the gene detected. The chances that the dog will develop the disease are low and could pass on either allele to any offspring.
N/NClearDog tested negative for the DCM mutation and will not pass on the defective gene to its offspring.

Genetic testing verifies the DCM2 genotype and presents results as one of the following:

DCM2/DCM2At RiskThe dog has inherited two copies of the mutated gene and is homozygous for the mutation. The dog is at risk to develop the disorder during its lifetime. The dog will always pass a copy of the mutation to its offspring.
N/DCM2Carrier/Low RiskBoth the normal and mutant copies of the gene detected. The chances that the dog will develop the disease are low and could pass on either allele to any offspring.
N/NClearDog tested negative for the DCM mutation and will not pass on the defective gene to its offspring.

Adapted from Animal Genetics UK Web Page

https://www.animalgenetics.eu/Canine/Genetic_Disease/DCM.asp

von Willebrand Disease 

Adapted from Cornell University College of Veterinary Medicine Web Page and VCA Hospitals Web Page

von Willebrand Disease (abbreviated vWD) is an inherited bleeding disorder caused by lack of von Willebrand factor protein (vWF). This protein circulates in the blood stream and must be present at the site of blood vessel injury in order to control bleeding from that vessel. Von Willebrand disease is a distinct disorder, it is not hemophilia.

There are three variants or forms of vWD (types 1,2,3) defined by the quantity and structure of plasma von Willebrand factor (abbreviated vWF) in affected dogs. Within each breed a single form of vWD predominates.

Dobermans typically have the Type 1 variant.  It is caused by a deficiency in the amount of a specific protein needed to help platelets stick together and form clots to seal broken blood vessels. The deficient protein is called von Willebrand factor. As with most genes there two copies of the gene that codes for this protein. Puppies get one copy from each parent. A dog with one normal and one abnormal gene is called heterozygosis for the trait. A dog with two copies is called homozygous for the trait. A dog who is heterozygous for Type 1 vWD will rarely have bleeding issues and the main issue relates to breeding. Two heterozygous dogs should not be mated as this (statistically) will result in half of the offspring being homozygous and have a much higher risk of bleeding issues.

At least thirty different breeds are affected, but the Doberman Pinscher is the breed with the highest incidence of vWD. Of 15,000 Dobermans screened in a research study, more than 70% were found to be carriers of the disease. Fortunately, most of these were not showing signs of the disease at the time of testing. However, the number of Dobermans with a history of bleeding appears to be on the rise. Although Dobermans are commonly affected, they usually have the mildest form of the disease. 

Adapted from Cornell University College of Veterinary Medicine Web Page

https://www.vet.cornell.edu/animal-health-diagnostic-center/laboratories/comparative-coagulation/clinical-topics/canine-von-willebrand-disease

and

VCA Hospitals Web Page

https://vcahospitals.com/know-your-pet/von-willebrands-disease-in-dogs