Von Willebrand Disease II
Breed: German Shorthaired Pointing Dog/ Deutsch Kurzhaar
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 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
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
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
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
VWF
Mutation
g.38924099A>G
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
VWF
Mutation
G>A in a2 domain
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
Gene Name
VWF
Mutation
c.4937A>G
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
VWF
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
119
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
VWF
Mutation
c.4937A>G
Mutation Comment
g.38924099A>G
Nature of test
mutation test
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
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
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
DNA My Dog
GTP
GTP Name
DNA My Dog
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
This test is outsourced to:
Orivet
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain
Nature of test
mutation test
Inheritance
AR
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
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
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
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
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
VWF
Mutation
A>G in a2 domain; G>A in a2 domain; c.4937A>G
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
Gene Name
VWF
Mutation
c.4937A>G