OMIA:001056-9823 : Von Willebrand disease, generic in Sus scrofa (pig) |
In other species: dog , domestic cat , horse , taurine cattle , rabbit
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 177820 (trait) , 193400 (trait) , 231200 (trait) , 277480 (trait) , 314560 (trait) , 613160 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: The von Willebrand factor (vWF) is a large multimeric plasma glycoprotein required for platelet adhesion and aggregation. A deficiency or defective vWF results in von Willebrand disease (vWD). vWD are often classified in 3 different types based on the clinical severity and quantity and multimere size of von Willebrand factor. Type I is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms. Type II disorder is characterised by qualitative abnormalities of the vWF protein and moderate to severe bleeding. Type III is the most severe form of vWD with no detectable or a severe quantitative deficiency of vWF.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| VWF | von Willebrand factor | Sus scrofa | 5 | NC_010447.5 (64516627..64655938) | VWF | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001056-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 | Tanihara, F., Hirata, M., Otoi, T. : |
| Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025. | |
| 2014 | Hai, T., Teng, F., Guo, R., Li, W., Zhou, Q. : |
| One-step generation of knockout pigs by zygote injection of CRISPR/Cas system. Cell Res 24:372-5, 2014. Pubmed reference: 24481528. DOI: 10.1038/cr.2014.11. | |
| 2005 | Sauger, A., Chtourou, S., Samor, B., Bonneau, M., Roussi, J., Drouet, L., Mazurier, C. : |
| Study of human von Willebrand factor immunogenicity in pigs with severe von Willebrand disease. Blood Coagul Fibrinolysis 16:187-92, 2005. Pubmed reference: 15795537. | |
| 2002 | Gaca, J.G., Lesher, A., Aksoy, O., Ruggeri, Z.M., Parker, W., Davis, R.D. : |
| The role of the porcine von Willebrand factor: Baboon platelet interactions in pulmonary xenotransplantation Transplantation 74:1596-1603, 2002. Pubmed reference: 12490794. DOI: 10.1097/01.TP.0000038800.37953.D9. | |
| 1999 | Brouland, J.P., Egan, T., Roussi, J., Bonneau, M., Pignaud, G., Bal, C., Vaiman, M., Andre, P., Herve, P., Mazmanian, G.M., Drouet, L. : |
| In vivo regulation of von Willebrand factor synthesis - von Willebrand factor production in endothelial cells after lung transplantation between normal pigs and von Willebrand factor-deficient pigs Arteriosclerosis Thrombosis & Vascular Biology 19:3055-3062, 1999. | |
| Meyer, C., Wolf, P., Romain, N., Ravanat, C., Roussi, J., Beller, J.P., Imbs, P., Chenard, M.P., Fabre, M., Kieny, R., Bonneau, M., Drouet, L., Cazenave, J.P., Soulillou, J.P., Azimzadeh, A. : | |
| Use of von Willebrand diseased kidney as donor in a pig-to-primate model of xenotransplantation Transplantation 67:38-45, 1999. Pubmed reference: 9921793. | |
| 1998 | Andre, P., Brouland, J.P., Roussi, J., Bonneau, M., Pignaud, G., Sollier, C.B.D., Hainaud, P., Vaiman, M., Drouet, L. : |
| Role of plasma and platelet von Willebrand factor in arterial thrombogenesis and hemostasis in the pig Experimental Hematology 26:620-626, 1998. Pubmed reference: 9657137. | |
| Roussi, J., Turecek, P.L., Andre, P., Bonneau, M., Pignaud, G., Sollier, C.B.D., Schlokat, U., Dorner, F., Schwarz, H.P., Drouet, L. : | |
| Effects of human recombinant, plasma-derived and porcine von Willebrand factor in pigs with severe von Willebrand disease Blood Coagulation & Fibrinolysis 9:361-372, 1998. Pubmed reference: 9690808. | |
| Royo, T., Vidal, M., Badimon, L. : | |
| Porcine platelet von willebrand antigen ii (vw agll) - inhibitory effect on collagen-induced aggregation and comparative distribution with human platelets Thrombosis & Haemostasis 80:677-685, 1998. | |
| 1997 | Giddings, J.C., Banning, A.P., Ralis, H., Lewis, M.J. : |
| Redistribution of von Willebrand factor in porcine carotid arteries after balloon angioplasty Arteriosclerosis Thrombosis & Vascular Biology 17:1872-1878, 1997. | |
| 1996 | Roussi, J., Samama, M., Vaiman, M., Nichols, T., Pignaud, G., Bonneau, M., Sigman, J., Decastro, H., Griggs, T., Drouet, L. : |
| An experimental model for testing von willebrand factor function - successful SLA-matched crossed bone marrow transplantations between normal and von Willebrand pigs Experimental Hematology 24:585-591, 1996. Pubmed reference: 8605962. | |
| Sjoberg, A., Seaman, W.T., Bellinger, D.A., Griggs, T.R., Nichols, T.C., Chowdhary, B.P. : | |
| Fish mapping of the porcine vwf gene to chromosome 5Q21 extends synteny homology with human chromosome 12 Hereditas 124:199-202, 1996. Pubmed reference: 8782436. | |
| 1995 | Nichols, T.C., Samama, C.M., Bellinger, D.A., Roussi, J., Reddick, R.L., Bonneau, M., Read, M.S., Bailliart, O., Koch, G.G., Vaiman, M., Sigman, J.L., Pignaud, G.A., Brinkhous, K.M., Griggs, T.R., Drouet, L. : |
| Function of von Willebrand factor after crossed bone marrow transplantation between normal and von Willebrand disease pigs: Effect on arterial thrombosis in chimeras Proceedings of the National Academy of Sciences of the United States of America 92:2455-2459, 1995. Pubmed reference: 7708664. | |
| 1992 | Benson, R.E., Catalfamo, J.L., Dodds, W.J. : |
| A Multispecies Enzyme-Linked Immunosorbent Assay for Von Willebrand's Factor Journal of Laboratory and Clinical Medicine 119:420-427, 1992. Pubmed reference: 1583394. | |
| Johnson, C.M., Bowie, E.J.W. : | |
| Pigs with von Willebrand Disease May Be Resistant to Experimental Infective Endocarditis Journal of Laboratory and Clinical Medicine 120:553-558, 1992. Pubmed reference: 1402331. | |
| Nichols, T.C., Bellinger, D.A., Davis, K.E., Koch, G.G., Reddick, R.L., Read, M.S., Rapacz, J., Hasler-Rapacz, J., Brinkhous, K.M., Griggs, T.R. : | |
| Porcine von Willebrand Disease and Atherosclerosis - Influence of Polymorphism in Apolipoprotein-B100 Genotype American Journal of Pathology 140:403-415, 1992. Pubmed reference: 1739133. | |
| Pareti, F.I., Mazzucato, M., Bottini, E., Mannucci, P.M. : | |
| Interaction of Porcine von Willebrand Factor with the Platelet Glycoprotein-Ib and Glycoprotein-IIb/IIIa Complex British Journal of Haematology 82:81-86, 1992. Pubmed reference: 1419806. | |
| 1991 | Brinkhous, K.M., Reddick, R.L., Read, M.S., Nichols, T.C., Bellinger, D.A., Griggs, T.R. : |
| von Willebrand Factor and Animal Models - Contributions to Gene Therapy, Thrombotic Thrombocytopenic Purpura, and Coronary Artery Thrombosis Mayo Clinic Proceedings 66:733-742, 1991. Pubmed reference: 2072761. | |
| Nichols, T.C., Bellinger, D.A., Reddick, R.L., Read, M.S., Koch, G.G., Brinkhous, K.M., Griggs, T.R. : | |
| Role of vonWillebrand Factor in Arterial Thrombosis - Studies in Normal and Vonwillebrand Disease Pigs Circulation 83:56-64, 1991. Pubmed reference: 2040072. | |
| 1990 | Nichols, T.C., Bellinger, D.A., Tate, D.A., Reddick, R.L., Read, M.S., Koch, G.G., Brinkhous, K.M., Griggs, T.R. : |
| Vonwillebrand Factor and Occlusive Arterial Thrombosis - A Study in Normal and Vonwillebrands Disease Pigs with Diet- Induced Hypercholesterolemia and Atherosclerosis Arteriosclerosis 10:449-461, 1990. Pubmed reference: 2344301. | |
| 1989 | Badimon, L., Badimon, J.J., Galvez, A., Turitto, V., Fuster, V. : |
| Platelet Interaction with Vessel Wall and Collagen in Pigs with Homozygous Vonwillebrands Disease Associated with Abnormal Collagen Aggregation Thrombosis and Haemostasis 61:57-64, 1989. Pubmed reference: 2665168. | |
| Bahnak, B.R., Wu, Q.Y., Coulombel, L., Assouline, Z., Kerbiriounabias, D., Pietu, G., Drouet, L., Caen, J.P., Meyer, D. : | |
| Expression of Vonwillebrand Factor in Porcine Vessels - Heterogeneity at the Level of Vonwillebrand Factor Messengerrna Journal of Cellular Physiology 138:305-310, 1989. Pubmed reference: 2783933. DOI: 10.1002/jcp.1041380212. | |
| 1988 | Bahou, W.F., Bowie, E.J.W., Fass, D.N., Ginsburg, D. : |
| Molecular genetic analysis of porcine von Willebrand disease: tight linkage to the von Willebrand factor locus Blood 72:308-313, 1988. Pubmed reference: 2898953. | |
| 1982 | Ollivier, L., Sellier, P. : |
| Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982. | |
| 1979 | Fass, D.N., Walter Bowie, E.J., Owen, C.A., Zollman, P.E. : |
| Inheritance of porcine Von Willebrand's disease. A study of a kindred of over 700 pigs Blood 53:712-719, 1979. Pubmed reference: 311643. | |
| 1978 | Read, M.S., Shermer, R.W., Brinkhous, K.M. : |
| Venom coagglutinin: an activator of platelet aggregation dependent on von Willebrand factor. Proc Natl Acad Sci U S A 75:4514-8, 1978. Pubmed reference: 309134. DOI: 10.1073/pnas.75.9.4514. | |
| 1977 | Dodds, W.J. : |
| Porcine and canine von Willebrand's disease Comparative Pathology Bulletin 9:2-, 1977. | |
| 1976 | Fass, D.N., Brockway, W.J., Owen, C.A., Bowie, E.J.W. : |
| Factor VIII (Willebrand) antigen and ristocetin-Willebrand factor in pigs with von Willebrand's disease Thrombosis Research 8:319-327, 1976. Pubmed reference: 1083569. | |
| Webster, W.P., Mandel, S.R., Strike, L.E., Penick, G.D., Griggs, T.R., Brinkhous, K.M. : | |
| Factor VIII synthesis: hepatic and renal allografts in swine with Von Willebrand's disease American Journal of Physiology 230:1342-1348, 1976. Pubmed reference: 776006. | |
| 1974 | Dodds, W.J. : |
| Hereditary and acquired hemorrhagic disorders in animals. Prog Hemost Thromb 2:215-47, 1974. Pubmed reference: 4604529. | |
| Griggs, T.R., Webster, W.P., Cooper, H.A., Wagner, R.H., Brinkhous, K.M. : | |
| Von Willebrand factor: gene dosage relationships and transfusion response in bleeder swine - a new bioassay Proceedings of the National Academy of Sciences 71:2087-2090, 1974. | |
| Owen, C.A., Bowie, E.J.W., Zollman, P.E., Fass, D.N., Gordon, H. : | |
| Carrier of porcine Von Willebrand's disease Journal of Veterinary Research 35:245-248, 1974. | |
| 1973 | Bowie, E.J.W., Owen, C.A., Zollman, P.E., Thompson, J.H., Fass, D.N. : |
| Tests of hemostasis in swine: normal values and values in pigs affected with von Willebrand's disease American Journal of Veterinary Research 34:1405-1407, 1973. Pubmed reference: 4542959. | |
| 1942 | Mertz, E.T. : |
| The anomaly of a normal Duke's and a very prolonged saline bleeding time in swine suffering from an inherited bleeding disorder American Journal of Physiology 136:360-362, 1942. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 26 Dec 2021