The detail information of Von Willebrand disease I
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: 1998

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
CB88 Doberman Pinscher 66-71.1 cm (male), 61-66 cm (female) 34-45.4 kg (male), 27.2-40.8 kg (female) 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.
2021 Barbry,J.B.,Poinsard,A.S.,Bouzouraa,T.,Durand,A.,Balland,O.: :
Case report of unilateral retrobulbar hematoma associated with von Willebrand disease in a Doberman Pinscher dog. Clin Case Rep 9:1235-1240, 2021.
Pubmed reference: 33768818 . DOI: 10.1002/ccr3.3735 .
2019 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 .
2018 Crespi,J.A.,Barrientos,L.S.,Giovambattista,G.: :
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina. J Vet Diagn Invest 30:310-314, 2018.
Pubmed reference: 29271313 . DOI: 10.1177/1040638717750429 .
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 .
2013 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 .
2012 Boudreaux,M.K.: :
Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) 22:30-41, 2012.
Pubmed reference: 22316339 . DOI: 10.1111/j.1476-4431.2011.00702.x .
2005 Callan,MB.,Giger,U.,Catalfamo,JL.: :
Effect of desmopressin on von Willebrand factor multimers in Doberman Pinschers with type 1 von Willebrand disease. Am J Vet Res 66:861-7, 2005.
Pubmed reference: 15938072 .
2004 Anonymous: :
Detection of von Willebrand disease (vWD) in Doberman, Manchester Terrier and Poodle Kleintierpraxis 49:717-718, 2004.
2002 Callan,M.B.,Giger,U.: :
Effect of desmopressin acetate administration on primary hemostasis in Doberman Pinschers with type-1 von Willebrand disease as assessed by a point-of-care instrument American Journal of Veterinary Research 63:1700-1706, 2002.
Pubmed reference: 12492285 .
2001 Brooks,M.B.,Erb,H.N.,Foureman,P.A.,Ray,K.: :
von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers American Journal of Veterinary Research 62:364-369, 2001.
Pubmed reference: 11277201 .
2000 Lutze,G.,Kutschmann,K.,Aumann,V.,Hartung,K.J.,Mittler,U.: :
Combined von Willebrand disease and factor XII deficiency (vWD San Diego) in the dog and humans [German] Praktische Tierarzt 81:912-+, 2000.
2000 Riehl,J.,Okura,M.,Mignot,E.,Nishino,S.: :
Inheritance of von Willebrand's disease in a colony of Doberman Pinschers American Journal of Veterinary Research 61:115-120, 2000.
Pubmed reference: 10685679 .
1999 Johnstone,I.B.: :
Desmopressin enhances the binding of plasma von Willebrand factor to collagen in plasmas from normal dogs and dogs with Type I von Willebrand's disease Canadian Veterinary Journal - Revue Veterinaire Canadienne 40:645-648, 1999.
1998 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.
1998 Moser,J.,Meyers,K.M.,Russon,R.H.,Reeves,J.J.: :
Plasma von-Willebrand-factor changes during various reproductive cycle stages in mixed-breed dogs with normal von-Willebrand-factor and in Doberman Pinschers with type-I von-Willebrands-disease American Journal of Veterinary Research 59:111-118, 1998.
Pubmed reference: 9442254 .
1998 Stokol,T.,Parry,B.W.: :
Efficacy of fresh-frozen plasma and cryoprecipitate in dogs with Von-Willebrands-disease or hemophilia a Journal of Veterinary Internal Medicine 12:84-92, 1998.
Pubmed reference: 9560764 .
1996 Moser,J.,Meyers,K.M.,Russon,R.H.: :
Inheritance of von Willebrand factor deficiency in Doberman pinschers. J Am Vet Med Assoc 209:1103-6, 1996.
Pubmed reference: 8800256 .
1995 Meinkoth,J.H.,Meyers,K.M.: :
Measurement of von Willebrand factor-specific mRNA and release and storage of von Willebrand factor from endothelial cells of dogs with type-I von Willebrands disease American Journal of Veterinary Research 56:1577-1585, 1995.
Pubmed reference: 8599517 .
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 .