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Von Willebrand Disease II

Breed: German shorthaired pointing dog/ Deutsch Kurzhaar

Generic Phene Data

General

Disease Name
Von Willebrand Disease II
OMIA
1339
Gene Name
VWF
Mutation
G>A in a2 domain
Mutation 2
A>G in a2 domain
Mutation 3
c.4937A>G
OMIM
613554
Disease Code
VWF2
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
Kramer, JW., Venta, PJ., Klein, SR., Cao, Y., Schall, WD., Yuzbasiyan-Gurkan, V. : A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs. Vet Pathol 41:221-8, 2004. Pubmed reference: 15133170. DOI: 10.1354/vp.41-3-221.
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.
Published 3
Donner, J., Kaukonen, M., Anderson, H., Móller, F., Kyóstilä, K., Sankari, S., Hytónen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Di
Body/System/Process
Blood
Inheritance
AR
Gene Name Text
von Willebrand factor

Breed Specific Data

Antagene

Link to GTP
GTP
Gene Name
VWF
Mutation
A>G in a2 domain
Nature of test
mutation test
Inheritance
AR

Genomia s.r.o

Link to GTP
Gene Name
VWF
Mutation
c.4937A>G
Nature of test
mutation test

EVG Diagnostics

Link to GTP
Gene Name
VWF
Mutation
g.38924099A>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Vet Pathol 41:221?228 (2004)

CAG GmbH Center for Animal Genetics

Link to GTP
Gene Name
VWF
Mutation
G>A in a2 domain
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
Gene Name
VWF
Mutation
G>A in a2 domain
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
Gene Name
VWF
Mutation
G>A in a2 domain
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
Gene Name
VWF
Mutation
G>A in a2 domain
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
Gene Name
VWF
Mutation
G>A in a2 domain
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
Gene Name
VWF
Mutation
G>A in a2 domain
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

VHL Genetics

Link to GTP
Gene Name
VWF
Mutation
G>A in a2 domain
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
Gene Name
VWF
Mutation
G>A in a2 domain
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

VetGen LLC

Link to GTP
Gene Name
VWF
Mutation
G>A in a2 domain

Paw Print Genetics

Link to GTP
Gene Name
VWF
Mutation
Point Mutation
Nature of test
mutation test

GenSol Diagnostics

Link to GTP
Gene Name
VWF
Mutation
A>G in a2 domain

GenSol Diagnostics

Link to GTP
Gene Name
VWF
Mutation
c.4937A>G

GenSol Diagnostics

Link to GTP
Gene Name
VWF
Mutation
A>G in a2 domain

GenSol Diagnostics

Link to GTP
Gene Name
VWF
Mutation
c.4937A>G

Anicom

Link to GTP
GTP
Gene Name
VWF
Mutation
A>G in a2 domain

Anicom

Link to GTP
GTP
Gene Name
VWF
Mutation
G>A in a2 domain

Anicom

Link to GTP
GTP
Gene Name
VWF
Mutation
c.4937A>G
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