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Search Term: Von Willebrand Disease III
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Disease Name
Von Willebrand Disease III
OMIA
1058
Gene Name
VWF
Mutation
c.264delC
Mutation 2
c.2186+1G>A
Mutation 3
c.937delT
OMIM
277480
Disease Code
VWF3
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
Rieger, M., Schwarz, H.P., Turecek, P.L., Dorner, F., Vanmourik, J.A., Mannhalter, C. : Identification of mutations in the canine von Willebrand factor gene associated with type III von-Willebrand-disease Thrombosis and Haemostasis 80:332-337, 1998. Pubmed reference: 9716162.
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.
Body/System/Process
Blood
OMIA Url
Inheritance
AR
Gene Name Text
von Willebrand factor
Researched Breeds
Dutch Kooiker, Scottish Terrier, Shetland Sheepdog
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
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Wageningen
NL
NL
VHL Genetics
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Naas, Co. Kildare
IE
IE
Weatherbys Scientific
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Vancouver, Washington
US
US
Wisdom Panel - Kinship
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