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Von Willebrand Disease I
Breed: Dobermann
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 I
OMIA
1057
Gene Name
VWF
Mutation
c.7142C>T
Mutation 2
c.7437G>A
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
Brewer, G.J., Venta, P.J., Schall, W., Yuzbasiyan-Gurkan, V., Li, J. : DNA tests for von Willebrand?s disease in Dobermans, Scotties, Shelties and Manchester terriers. Canine Practice 23:45, 1998.
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
Segert, J.H., Seidel, J.M., Wurzer, W.J., Geretschlaeger, A.M. : vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed. Canine Genet Epidemiol 6:3, 2019. Pubmed reference: 31131110. DOI: 10.1186/s40575-019-0073-4.
Body/System/Process
Blood
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Doberman Pincher
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
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
143
GTP Breed
Doberman Pinscher
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
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
143
GTP Breed
Dobermann
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
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
143
GTP Breed
Dobermann
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Mutation Comment
g.38951839G>A
Nature of test
mutation test
FCI Number
143
GTP Breed
Dobermann
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Nature of test
mutation test
FCI Number
143
GTP Breed
Dobermann
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
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
143
GTP Breed
Dobermann
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
143
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7437G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gentilini, F., Turba, M.E.Two novel real-time PCR methods for genotyping the von Willebrand disease type I mutation in Doberman Pinscher dogs. Vet J 197:457-60, 2013. Pubmed reference: 23911791. DOI: 10.1016/j.tvjl.2013.02.023. (2013)
Inheritance
AR
FCI Number
143
GTP Breed
Doberman Pinscher
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
von Willebrand Factor I
Gene Name
VWF
Mutation
c.7142C>T
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
143
GTP Breed
Dobermann
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
VWF
Mutation
c.7437G>A; c.7142C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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