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Syndromic constitutional thrombocytopenia

MedGen UID:
1843101
Concept ID:
C5681257
Disease or Syndrome
Synonym: syndromic constitutional thrombocytopenia
 
Monarch Initiative: MONDO:0018795
Orphanet: ORPHA477794

Professional guidelines

PubMed

Kremer Hovinga JA, Lämmle B
Hematology Am Soc Hematol Educ Program 2012;2012:610-6. doi: 10.1182/asheducation-2012.1.610. PMID: 23233642
Yarranton H, Machin SJ
Curr Opin Neurol 2003 Jun;16(3):367-73. doi: 10.1097/01.wco.0000073939.19076.78. PMID: 12858075
Novitzky N
Am J Hematol 2000 Apr;63(4):212-22. doi: 10.1002/(sici)1096-8652(200004)63:4<212::aid-ajh9>3.0.co;2-d. PMID: 10706766

Recent clinical studies

Etiology

Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Srkalovic G, Marijanovic I, Srkalovic MB, Fajgenbaum DC
Bosn J Basic Med Sci 2017 May 20;17(2):81-84. doi: 10.17305/bjbms.2017.1930. PMID: 28135567Free PMC Article
Saric M, Kronzon I
Curr Opin Cardiol 2011 Nov;26(6):472-9. doi: 10.1097/HCO.0b013e32834b7fdd. PMID: 21993354
Lämmle B, Kremer Hovinga JA, Alberio L
J Thromb Haemost 2005 Aug;3(8):1663-75. doi: 10.1111/j.1538-7836.2005.01425.x. PMID: 16102032

Diagnosis

Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM
Am J Hematol 2021 Nov 1;96(11):1450-1460. Epub 2021 Aug 27 doi: 10.1002/ajh.26321. PMID: 34390506
Vaxman I, Gertz M
Leuk Lymphoma 2020 Jun;61(6):1292-1304. Epub 2020 Jan 21 doi: 10.1080/10428194.2020.1711901. PMID: 31960730
Srkalovic G, Marijanovic I, Srkalovic MB, Fajgenbaum DC
Bosn J Basic Med Sci 2017 May 20;17(2):81-84. doi: 10.17305/bjbms.2017.1930. PMID: 28135567Free PMC Article
Saric M, Kronzon I
Curr Opin Cardiol 2011 Nov;26(6):472-9. doi: 10.1097/HCO.0b013e32834b7fdd. PMID: 21993354

Therapy

Frączkiewicz J, Sęga-Pondel D, Kazanowska B, Ussowicz M
J Pediatr Hematol Oncol 2020 Mar;42(2):113-117. doi: 10.1097/MPH.0000000000001528. PMID: 31205222
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article
Léon C, Dupuis A, Gachet C, Lanza F
Haematologica 2016 Aug;101(8):896-908. doi: 10.3324/haematol.2015.139394. PMID: 27478199Free PMC Article
Bruwier A, Chantrain CF
Eur J Pediatr 2012 Sep;171(9):1301-7. Epub 2011 Nov 24 doi: 10.1007/s00431-011-1624-1. PMID: 22113227
Vial T, Descotes J
Drug Saf 1995 Dec;13(6):371-406. doi: 10.2165/00002018-199513060-00006. PMID: 8652081

Prognosis

Srkalovic G, Marijanovic I, Srkalovic MB, Fajgenbaum DC
Bosn J Basic Med Sci 2017 May 20;17(2):81-84. doi: 10.17305/bjbms.2017.1930. PMID: 28135567Free PMC Article
Mansouri Taleghani M, von Krogh AS, Fujimura Y, George JN, Hrachovinová I, Knöbl PN, Quist-Paulsen P, Schneppenheim R, Lämmle B, Kremer Hovinga JA
Hamostaseologie 2013 May 29;33(2):138-43. doi: 10.5482/HAMO-13-04-0026. PMID: 23715103
Bruwier A, Chantrain CF
Eur J Pediatr 2012 Sep;171(9):1301-7. Epub 2011 Nov 24 doi: 10.1007/s00431-011-1624-1. PMID: 22113227
Marques MB, Mayfield CA, Blackall DP
Am J Clin Pathol 2004 Jun;121 Suppl:S89-96. doi: 10.1309/W0EB532WQT6TF8DP. PMID: 15298154
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286

Clinical prediction guides

Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article
Caceres DH, Tobón AM, Cleveland AA, Scheel CM, Berbesi DY, Ochoa J, Restrepo A, Brandt ME, Chiller T, Gómez BL
Am J Trop Med Hyg 2016 Oct 5;95(4):918-924. Epub 2016 Aug 1 doi: 10.4269/ajtmh.15-0837. PMID: 27481056Free PMC Article
Fu B, Ok CY, Goswami M, Xei W, Jaso JM, Muzzafar T, Bueso-Ramos C, Verstovsek S, Garcia-Manero G, Medeiros LJ, Wang SA
Ann Hematol 2013 Oct;92(10):1335-43. Epub 2013 May 10 doi: 10.1007/s00277-013-1776-3. PMID: 23660629Free PMC Article
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286
Vial T, Descotes J
Drug Saf 1995 Dec;13(6):371-406. doi: 10.2165/00002018-199513060-00006. PMID: 8652081

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