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Search Term: Von Willebrand Disease II
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
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
OMIA Url
Inheritance
AR
Gene Name Text
von Willebrand factor
Researched Breeds
Chinese Crested Dog, German Shorthair Pointer, German Wirehaired Pointer
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
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Boston, MA
US
US
Embark
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Maribor
SI
SI
EVG Diagnostics
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Plzen
CZ
CZ
Genomia s.r.o
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Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
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St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-participant Other Recognized Accreditation Subsidiary Company
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-participant Other Recognized Accreditation
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
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