Defective VWF binding to collagen type I

Stable Identifier
R-HSA-9845622
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective VWF binding to collagen type I
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Upon vascular injury, circulating von Willebrand factor (VWF) binds to exposed vascular collagen. This Reactome event shows defective binding of VWF to collagen type I caused by loss-of-function mutations in the A3 domain of VWF found in patients with von Willebrand disease (VWD) type 2M, which is characterized by defects in platelet adhesion and/or collagen binding with normal or subnormal VWF multimer distribution.
Literature References
PubMed ID Title Journal Year
25051961 Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation

Shida, Y, Rydz, N, Stegner, D, Brown, C, Mewburn, J, Sponagle, K, Danisment, O, Crawford, B, Vidal, B, Hegadorn, CA, Pruss, CM, Nieswandt, B, Lillicrap, D

Blood 2014
19687512 Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

Riddell, AF, Gomez, K, Millar, CM, Mellars, G, Gill, S, Brown, SA, Sutherland, M, Laffan, MA, McKinnon, TA

Blood 2009
20345715 Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD

Flood, VH, Lederman, CA, Wren, JS, Christopherson, PA, Friedman, KD, Hoffmann, RG, Montgomery, RR

J Thromb Haemost 2010
34758185 Von Willebrand disease type 2M: Correlation between genotype and phenotype

Maas, DPMSM, Atiq, F, Blijlevens, NMA, Brons, PPT, Krouwel, S, Laros-van Gorkom, BAP, Leebeek, FWG, Nieuwenhuizen, L, Schoormans, SCM, Simons, A, Meijer, D, van Heerde, WL, Schols, SEM

J Thromb Haemost 2022
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
Cross References
Mondo
Authored
Shamovsky, V  (2023-01-07)
Reviewed
Gao, R  (2023-11-06)
Created
Shamovsky, V  (2023-10-06)
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