Disease Detail Information

OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Year key mutation first reported: 2004

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds

iDog Breed Number	Breed Name	Height	Weight	Breed Source
CB72	Chinese Crested	27.9-33 cm	3.6-5.4 kg	Africa, Mexico
CB111	German Short-Haired Pointer	58.4-63.5 cm (male), 53.3-58.4 cm (female)	24.9-31.8 kg (male), 20.4-27.2 kg (female)	Germany
CB113	German Wire-Haired Pointer	61-66 cm (male), minimum 55.9 cm (female)	22.7-31.8 kg	Germany

Associated Gene

There are no associated genes.

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2017	Vos-Loohuis,M.,vanOost,B.A.,Dangel,C.,Langbein-Detsch,I.,Leegwater,P.A.: : A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Anim Genet 48:493-496, 2017. Pubmed reference: 28696025 . DOI: 10.1111/age.12544 .
2016	Nichols,T.C.,Hough,C.,Agersø,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 .
2012	Gavazza,A.,Presciuttini,S.,Keuper,H.,Lubas,G.: : Estimated prevalence of canine Type 2 Von Willebrand disease in the Deutsch-Drahthaar (German Wirehaired Pointer) in Europe. Res Vet Sci 93:1462-6, 2012. Pubmed reference: 22824509 . DOI: 10.1016/j.rvsc.2012.06.010 .
2006	Sabino,E.P.,Erb,H.N.,Catalfamo,J.L.: : Development of a collagen-binding activity assay as a screening test for type II von Willebrand disease in dogs. Am J Vet Res 67:242-9, 2006. Pubmed reference: 16454628 . DOI: 10.2460/ajvr.67.2.242 .
2004	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 .
2001	vanDongen,A.M.,vanLeeuwen,M.,Slappendel,R.J.: : Canine von Willebrand's disease type 2 in German wirehair pointers in the Netherlands Veterinary Record 148:80-82, 2001. Pubmed reference: 12503596 .
1996	Brooks,M.,Raymond,S.,Catalfamo,J.: : Severe, recessive von Willebrand's disease in German Wirehaired Pointers. J Am Vet Med Assoc 209:926-9, 1996. Pubmed reference: 8790542 .
1996	Brooks,M.,Raymond,S.,Catalfamo,J.: : Plasma von Willebrand factor antigen concentration as a predictor of von Willebrand's disease status in German Wirehaired Pointers. J Am Vet Med Assoc 209:930-3, 1996. Pubmed reference: 8790543 .
1993	Brooks,M.,Catalfamo,J.: : Buccal Mucosa Bleeding Time Is Prolonged in Canine Models of Primary Hemostatic Disorders Thrombosis and Haemostasis 70:777-780, 1993. Pubmed reference: 8128434 .