The detail information of Von Willebrand disease II
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 Personality Height Weight History 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
Symbol Description Species Position Other Links
VWF von Willebrand factor Canis lupus familiaris Chr27 : 39191850 - 39329540 Homologene, Ensembl, NCBI gene
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 .