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Von Willebrand Disease III

Breed: Scottish Terrier

Generic Phene Data

General

Disease Name
Von Willebrand Disease III
OMIA
1058
Gene Name
VWF
Mutation
c.264delC
Mutation 2
c.2186+1G>A
Mutation 3
c.937delT
OMIM
277480
Disease Code
VWF3
Test Type
Genetic Disease/Disorder
Details
Von Willebrand?s disease (vWD) is a blood disease caused by a deficiency of von Willebrand Factor (vWF), an adhesive glycoprotein in the blood required for normal blood clotting. A lack of vWF impairs platelet stickiness and clumping. Symptoms can include: spontaneous hemorrhage from mucosal surfaces, nosebleeds, blood in the faeces, bloody urine, bleeding gums, excessive vaginal bleeding, bruising, prolonged bleeding after surgery or trauma, blood loss anemia. The inheritance of the severe forms (Types II and III) is autosomal recessive. The milder form (Type I) may be autosomal recessive or incompletely dominant. This is the most common hereditary blood clotting disorder in dogs.
Details 2
Von Willebrand?s disease (vWD) is a blood disease caused by a deficiency of von Willebrand Factor (vWF), an adhesive glycoprotein in the blood required for normal blood clotting. A lack of vWF impairs platelet stickiness and clumping. Symptoms can include: spontaneous hemorrhage from mucosal surfaces, nosebleeds, blood in the faeces, bloody urine, bleeding gums, excessive vaginal bleeding, bruising, prolonged bleeding after surgery or trauma, blood loss anemia. The inheritance of the severe forms (Types II and III) is autosomal recessive. The milder form (Type I) may be autosomal recessive or incompletely dominant. This is the most common hereditary blood clotting disorder in dogs.
Published
Rieger, M., Schwarz, H.P., Turecek, P.L., Dorner, F., Vanmourik, J.A., Mannhalter, C. : Identification of mutations in the canine von Willebrand factor gene associated with type III von-Willebrand-disease Thrombosis and Haemostasis 80:332-337, 1998. Pubmed reference: 9716162.
Published 2
Nichols, T.C., Hough, C., Agerso¸, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies. J Thromb Haemost 14:894-905, 2016. Pubmed reference: 26924758. DOI: 10.1111/jth.13301.
Body/System/Process
Blood
Inheritance
AR
Gene Name Text
von Willebrand factor

Breed Specific Data

Antagene

Link to GTP
GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

CAG GmbH Center for Animal Genetics

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

DNA My Dog

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

Embark

Link to GTP
GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

Genoscoper Laboratories Oy

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

Laboklin Gmbh & Co. KG

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

Orivet Genetic Pet Care

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

Veterinary Genetics Laboratory

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Venta PJ, Li J, Yuzbasiyan-Gurkan V, Brewer GJ, Schall WD. Mutation causing von Willebrand?s Disease in Scottish Terriers. J Vet Intern Med. 2000 Jan-Feb;14(1):10-9. [PubMed: 10668811]
Inheritance
AR

VHL Genetics

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

Wisdom Health (formerly Mars Veterinary)

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.
Inheritance
AR

EVG Diagnostics

Link to GTP
Gene Name
VWF
Mutation
c.264delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
J Vet Intern Med 2000;14:10?19

VetGen LLC

Link to GTP
Gene Name
VWF
Mutation
c.264delC

Paw Print Genetics

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
Deletion
Nature of test
mutation test

GenSol Diagnostics

Link to GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
GTP- or Breed-Specific Publications
Nichols, T.C., Hough, C., Agers??, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.

Anicom

Link to GTP
GTP
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.264delC
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