Von Willebrand Disease II
Breed: Coton de Tulear
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
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
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
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Chinese Crested Dog, German Shorthair Pointer, German Wirehaired Pointer
HSP Test-Specific Data
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
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
FCI Number
283
GTP Breed
Coton de Tuleur
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Embark
GTP
GTP Name
Embark
Breed
OMIA
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
FCI Number
283
GTP Breed
Coton de Tuleur
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain