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Hemorrhagic disorder due to a qualitative platelet defect

MedGen UID:
1842730
Concept ID:
C5679758
Disease or Syndrome
Synonyms: Rare bleeding disorder due to a constitutional thrombopathy; Rare bleeding disorder due to a qualitative platelet defect; Rare coagulopathy due to a constitutional thrombopathy; Rare coagulopathy due to a qualitative platelet defect; Rare hemorrhagic disorder due to a constitutional thrombopathy; Rare hemorrhagic disorder due to a qualitative platelet defect
 
Orphanet: ORPHA275736

Professional guidelines

PubMed

Weyand AC, Flood VH
Hematol Oncol Clin North Am 2021 Dec;35(6):1085-1101. Epub 2021 Aug 13 doi: 10.1016/j.hoc.2021.07.004. PMID: 34400042Free PMC Article
Castaman G, Goodeve A, Eikenboom J; European Group on von Willebrand Disease
Haematologica 2013 May;98(5):667-74. doi: 10.3324/haematol.2012.077263. PMID: 23633542Free PMC Article
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782

Recent clinical studies

Etiology

Galvez C, Stein BL
Curr Hematol Malig Rep 2020 Aug;15(4):261-267. doi: 10.1007/s11899-020-00588-z. PMID: 32399765
Mannucci PM, Franchini M
Haemophilia 2017 Mar;23(2):182-187. Epub 2017 Jan 22 doi: 10.1111/hae.13165. PMID: 28111840
James PD, Goodeve AC
Genet Med 2011 May;13(5):365-76. doi: 10.1097/GIM.0b013e3182035931. PMID: 21289515Free PMC Article
Goodeve AC
Blood Rev 2010 May;24(3):123-34. Epub 2010 Apr 20 doi: 10.1016/j.blre.2010.03.003. PMID: 20409624
Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081

Diagnosis

Weyand AC, Flood VH
Hematol Oncol Clin North Am 2021 Dec;35(6):1085-1101. Epub 2021 Aug 13 doi: 10.1016/j.hoc.2021.07.004. PMID: 34400042Free PMC Article
Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J; ClinGen Platelet Disorder Variant Curation Expert Panel
Haematologica 2020 Apr;105(4):888-894. Epub 2020 Mar 5 doi: 10.3324/haematol.2018.214239. PMID: 32139434Free PMC Article
James PD, Goodeve AC
Genet Med 2011 May;13(5):365-76. doi: 10.1097/GIM.0b013e3182035931. PMID: 21289515Free PMC Article
Schafer AI
Blood 2006 Jun 1;107(11):4214-22. Epub 2006 Feb 16 doi: 10.1182/blood-2005-08-3526. PMID: 16484586
Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081

Therapy

Rajpurkar M, Chitlur M, Recht M, Cooper DL
Haemophilia 2014 Jul;20(4):464-71. doi: 10.1111/hae.12473. PMID: 24948404
De Meyer SF, De Maeyer B, Deckmyn H, Vanhoorelbeke K
Cardiovasc Hematol Disord Drug Targets 2009 Mar;9(1):9-20. doi: 10.2174/187152909787581327. PMID: 19275573
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
White GC 2nd
Semin Hematol 2006 Jan;43(1 Suppl 1):S37-41. doi: 10.1053/j.seminhematol.2005.11.011. PMID: 16427384
Elliott MA, Tefferi A
Curr Hematol Rep 2004 Sep;3(5):344-51. PMID: 15341701

Prognosis

Galvez C, Stein BL
Curr Hematol Malig Rep 2020 Aug;15(4):261-267. doi: 10.1007/s11899-020-00588-z. PMID: 32399765
Haberichter SL
Blood 2015 Oct 8;126(15):1753-61. Epub 2015 Jul 27 doi: 10.1182/blood-2015-04-512731. PMID: 26215113Free PMC Article
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
Elliott MA, Tefferi A
Curr Hematol Rep 2004 Sep;3(5):344-51. PMID: 15341701
Lyons SE, Cooney KA, Bockenstedt P, Ginsburg D
Blood 1994 Mar 15;83(6):1551-7. PMID: 8123844

Clinical prediction guides

Sidonio RF Jr, Bryant PC, Di Paola J, Hale S, Heiman M, Horowitz GS, Humphrey C, Jaffray J, Joyner LC, Kasthuri R, Konkle BA, Kouides PA, Montgomery R, Neeves K, Randi AM, Scappe N, Tarango C, Tickle K, Trapane P, Wang M, Waters B, Flood VH
Expert Rev Hematol 2023 Mar;16(sup1):39-54. doi: 10.1080/17474086.2023.2171983. PMID: 36920856
Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free PMC Article
Piccin A, Steurer M, Feistritzer C, Murphy C, Eakins E, Van Schilfgaarde M, Corvetta D, Di Pierro AM, Pusceddu I, Marcheselli L, Gambato R, Langes M, Veneri D, Perbellini O, Pacquola E, Gottardi M, Gherlinzoni F, Mega A, Tauber M, Mazzoleni G, Piva E, Plebani M, Krampera M, Gastl G
Transl Res 2017 Jun;184:21-34. Epub 2017 Feb 14 doi: 10.1016/j.trsl.2017.02.001. PMID: 28259616
Sidonio RF Jr, Gunawardena S, Shaw PH, Ragni M
Pediatr Blood Cancer 2012 May;58(5):736-40. Epub 2012 Jan 11 doi: 10.1002/pbc.23411. PMID: 22237978
Lyons SE, Cooney KA, Bockenstedt P, Ginsburg D
Blood 1994 Mar 15;83(6):1551-7. PMID: 8123844

Recent systematic reviews

Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA
Haemophilia 2010 Jul 1;16(4):584-91. Epub 2010 Jan 12 doi: 10.1111/j.1365-2516.2009.02137.x. PMID: 20070385

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