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Von Willebrand Disease I

Breed: Coton de Tulear

Generic Phene Data

Breeds
Relevance Rating: All current available evidence has been reviewed, but relevancy is inconclusive, AND/OR the clinical form of this disease has never been seen for these breeds

General

Disease Name
Von Willebrand Disease I
Mutation
c.7142C>T
Mutation 2
c.7437G>A
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.

Breed Specific Info

Researched Breeds
Doberman Pincher

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

VHL Genetics

GTP Name
VHL Genetics
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

VetGen LLC

GTP Name
VetGen LLC
Gene Name
VWF
Mutation
c.7437G>A

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
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
FCI Number
283
GTP Breed
Coton de Tulear

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
FCI Number
283

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

INNO

GTP
GTP Name
INNO
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

GenSol Diagnostics

GTP Name
GenSol Diagnostics
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
GTP- or Breed-Specific Publications
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

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
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.

CMSCH

GTP
GTP Name
CMSCH
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
FCI Number
283
GTP Breed
Coton de Tulear

BioBank AS

GTP Name
BioBank AS
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A

Antagene

GTP
GTP Name
Antagene
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
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
FCI Number
283
GTP Breed
Coton de Tulear

Anicom

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

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
VWF
Mutation
c.7142C>T; c.7437G>A
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