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Von Willebrand Disease I

Breed: Welsh Corgi Pembroke

Generic Phene Data

Breeds

General

Disease Name
Von Willebrand Disease I
OMIA
1057
Gene Name
VWF
Mutation
c.7142C>T
Mutation 2
c.7437G>A
OMIM
193400
Disease Code
VWF1
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
Brewer, G.J., Venta, P.J., Schall, W., Yuzbasiyan-Gurkan, V., Li, J. : DNA tests for von Willebrand?s disease in Dobermans, Scotties, Shelties and Manchester terriers. Canine Practice 23:45, 1998.
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
Segert, J.H., Seidel, J.M., Wurzer, W.J., Geretschlaeger, A.M. : vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed. Canine Genet Epidemiol 6:3, 2019. Pubmed reference: 31131110. DOI: 10.1186/s40575-019-0073-4.
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 I
Gene Name
VWF
Mutation
c.7437G>A
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 I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

Genoscoper Laboratories Oy

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

Laboklin Gmbh & Co. KG

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

Paw Print Genetics

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

Veterinary Genetics Laboratory

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gentilini, F., Turba, M.E.Two novel real-time PCR methods for genotyping the von Willebrand disease type I mutation in Doberman Pinscher dogs. Vet J 197:457-60, 2013. Pubmed reference: 23911791. DOI: 10.1016/j.tvjl.2013.02.023. (2013)
Inheritance
AR

VHL Genetics

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

Wisdom Health (formerly Mars Veterinary)

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

Genomia s.r.o

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test

EVG Diagnostics

Link to GTP
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Am J Vet Res. 2001 Mar;62(3):364-9.

VetGen LLC

Link to GTP
Gene Name
VWF
Mutation
c.7437G>A

GenSol Diagnostics

Link to GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A

Anicom

Link to GTP
GTP
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
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