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Impaired ristocetin cofactor assay activity

MedGen UID:
868227
Concept ID:
C4022619
Finding
HPO: HP:0030129

Definition

Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired ristocetin cofactor assay activity

Professional guidelines

PubMed

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Elsenberg EH, van Werkum JW, van de Wal RM, Zomer AC, Bouman HJ, Verheugt FW, Berg JM, Hackeng CM
Thromb Haemost 2009 Oct;102(4):719-27. doi: 10.1160/TH09-05-0285. PMID: 19806258
Koscielny J, Ziemer S, Radtke H, Schmutzler M, Pruss A, Sinha P, Salama A, Kiesewetter H, Latza R
Clin Appl Thromb Hemost 2004 Jul;10(3):195-204. doi: 10.1177/107602960401000301. PMID: 15247976

Recent clinical studies

Etiology

Abegaz SB
Biomed Res Int 2021;2021:6629060. Epub 2021 Jan 23 doi: 10.1155/2021/6629060. PMID: 33564677Free PMC Article
Sang Y, Roest M, de Laat B, de Groot PG, Huskens D
Blood Rev 2021 Mar;46:100733. Epub 2020 Jul 12 doi: 10.1016/j.blre.2020.100733. PMID: 32682574Free PMC Article
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Trementino L, Arnaldi G, Appolloni G, Daidone V, Scaroni C, Casonato A, Boscaro M
Neuroendocrinology 2010;92 Suppl 1:55-9. Epub 2010 Sep 10 doi: 10.1159/000314349. PMID: 20829619
Brenner B
Thromb Res 2004;114(5-6):409-14. doi: 10.1016/j.thromres.2004.08.004. PMID: 15507271

Diagnosis

Sang Y, Roest M, de Laat B, de Groot PG, Huskens D
Blood Rev 2021 Mar;46:100733. Epub 2020 Jul 12 doi: 10.1016/j.blre.2020.100733. PMID: 32682574Free PMC Article
Kenet G, Barg AA, Nowak-Göttl U
Semin Thromb Hemost 2018 Oct;44(7):617-623. Epub 2018 Jun 18 doi: 10.1055/s-0038-1660852. PMID: 29913536
Mital A
Adv Clin Exp Med 2016 Nov-Dec;25(6):1337-1344. doi: 10.17219/acem/64942. PMID: 28028990
Shenkman B, Einav Y
Autoimmun Rev 2014 Apr-May;13(4-5):584-6. Epub 2014 Jan 11 doi: 10.1016/j.autrev.2014.01.004. PMID: 24418304
Trementino L, Arnaldi G, Appolloni G, Daidone V, Scaroni C, Casonato A, Boscaro M
Neuroendocrinology 2010;92 Suppl 1:55-9. Epub 2010 Sep 10 doi: 10.1159/000314349. PMID: 20829619

Therapy

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Muslem R, Caliskan K, Leebeek FWG
J Thromb Haemost 2018 Mar;16(3):429-440. Epub 2018 Jan 22 doi: 10.1111/jth.13933. PMID: 29274191
Tripodi A
Semin Thromb Hemost 2015 Jul;41(5):462-7. Epub 2015 Jun 16 doi: 10.1055/s-0035-1550440. PMID: 26080306
Trementino L, Arnaldi G, Appolloni G, Daidone V, Scaroni C, Casonato A, Boscaro M
Neuroendocrinology 2010;92 Suppl 1:55-9. Epub 2010 Sep 10 doi: 10.1159/000314349. PMID: 20829619
Michiels JJ, Berneman Z, Schroyens W, Finazzi G, Budde U, van Vliet HH
Semin Thromb Hemost 2006 Sep;32(6):589-604. doi: 10.1055/s-2006-949664. PMID: 16977569

Prognosis

Zinter MS, Delucchi KL, Kong MY, Orwoll BE, Spicer AS, Lim MJ, Alkhouli MF, Ratiu AE, McKenzie AV, McQuillen PS, Dvorak CC, Calfee CS, Matthay MA, Sapru A
Am J Respir Crit Care Med 2019 Jan 15;199(2):181-189. doi: 10.1164/rccm.201804-0678OC. PMID: 30114376Free PMC Article
Mital A
Adv Clin Exp Med 2016 Nov-Dec;25(6):1337-1344. doi: 10.17219/acem/64942. PMID: 28028990
Tripodi A
Semin Thromb Hemost 2015 Jul;41(5):462-7. Epub 2015 Jun 16 doi: 10.1055/s-0035-1550440. PMID: 26080306
Shenkman B, Einav Y
Autoimmun Rev 2014 Apr-May;13(4-5):584-6. Epub 2014 Jan 11 doi: 10.1016/j.autrev.2014.01.004. PMID: 24418304
Puccetti L, Bruni F, Pasqui AL, Pastorelli M, Bova G, Cercignani M, Palazzuoli A, Auteri A
Ital Heart J 2002 Oct;3(10):579-86. PMID: 12478815

Clinical prediction guides

Wu A, Sharrett AR, Folsom AR, Alonso A, Walker KA, Gottesman RF, Gross AL, Rawlings AM, Schneider ALC, Coresh J
Neurology 2023 Oct 24;101(17):e1697-e1707. Epub 2023 Aug 31 doi: 10.1212/WNL.0000000000207771. PMID: 37652701Free PMC Article
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Muslem R, Caliskan K, Leebeek FWG
J Thromb Haemost 2018 Mar;16(3):429-440. Epub 2018 Jan 22 doi: 10.1111/jth.13933. PMID: 29274191
Tripodi A
Semin Thromb Hemost 2015 Jul;41(5):462-7. Epub 2015 Jun 16 doi: 10.1055/s-0035-1550440. PMID: 26080306
Trementino L, Arnaldi G, Appolloni G, Daidone V, Scaroni C, Casonato A, Boscaro M
Neuroendocrinology 2010;92 Suppl 1:55-9. Epub 2010 Sep 10 doi: 10.1159/000314349. PMID: 20829619

Recent systematic reviews

Loures CMG, Duarte RCF, Silva MVF, Cicarini WB, de Souza LC, Caramelli P, Borges KBG, Carvalho MDG
Semin Thromb Hemost 2019 Jul;45(5):514-522. Epub 2019 May 16 doi: 10.1055/s-0039-1688444. PMID: 31096308
Quinn TJ, Gallacher J, Deary IJ, Lowe GD, Fenton C, Stott DJ
J Thromb Haemost 2011 Aug;9(8):1475-82. doi: 10.1111/j.1538-7836.2011.04403.x. PMID: 21676170
Knottnerus IL, Ten Cate H, Lodder J, Kessels F, van Oostenbrugge RJ
Cerebrovasc Dis 2009;27(5):519-26. Epub 2009 Apr 16 doi: 10.1159/000212672. PMID: 19372654

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