Von Willebrand Disease III
Breed: Nederlandse Kooikerhondje
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
GTPs
General
Disease Name
Von Willebrand Disease III
OMIA
1058
Gene Name
VWF
Mutation
c.264delC
Mutation 2
c.2186+1G>A
Mutation 3
c.937delT
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
Breed Specific Info
Researched Breeds
Dutch Kooiker, Scottish Terrier, Shetland Sheepdog
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.2186+1G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
VWD typ III
Gene Name
VWF
Mutation
c.2186+1G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.2186+1G>A
Nature of test
mutation test
FCI Number
314
GTP Breed
Nederlandse Kooikerhondje
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
314
GTP Breed
Nederlandse Kooikerhondje
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.2186+1G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Slappendel, R.J., Beijer, E.G.M., Vanleeuwen, M.Type III von-Willebrands-disease in Dutch Kooiker dogs Veterinary Quarterly 20:93-97, 1998. Pubmed reference: 9684296. (1998)
Inheritance
AR
FCI Number
314
GTP Breed
Nederlandse Kooikerhondje
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
von Willebrand Factor III
Gene Name
VWF
Mutation
c.2186+1G>A
Nature of test
mutation test
FCI Number
314
GTP Breed
Nederlandse Kooikerhondje
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
VWF
Mutation
c.2186+1G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA