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Inherited bleeding disorder, platelet-type

MedGen UID:
610
•Concept ID:
C0005818
•
Disease or Syndrome
Synonyms: Platelet disorder; Platelet-type bleeding disorder
SNOMED CT: Platelet disorder (22716005); Thrombocytopathy (22716005)
 
Monarch Initiative: MONDO:0000009
OMIM® Phenotypic series: PS231200
Orphanet: ORPHA248326

Definition

A disorder of platelet function or platelet production that may cause increased bleeding. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited bleeding disorder, platelet-type

Professional guidelines

PubMed

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L
Thromb Haemost 2016 Jul 4;116(1):17-31. Epub 2016 Mar 17 doi: 10.1160/TH15-07-0604. PMID: 26988807
Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder.
Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186
Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment.
Hayward CP, Rao AK, Cattaneo M
Haemophilia 2006 Jul;12 Suppl 3:128-36. doi: 10.1111/j.1365-2516.2006.01270.x. PMID: 16684008

Recent clinical studies

Etiology

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh KN, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee YH, Jung HL, Ha JS, Ki CS, On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog
Genes (Basel) 2021 May 6;12(5) doi: 10.3390/genes12050693. PMID: 34066320Free PMC Article
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L
Thromb Haemost 2016 Jul 4;116(1):17-31. Epub 2016 Mar 17 doi: 10.1160/TH15-07-0604. PMID: 26988807
Use of autologous platelet-rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders.
Nurden P, Youlouz-Marfak I, Siberchicot F, Kostrzewa E, Andia I, Anitua E, Nurden AT
Haemophilia 2011 Jul;17(4):620-4. Epub 2011 Feb 16 doi: 10.1111/j.1365-2516.2010.02480.x. PMID: 21323803
Qualitative disorders of platelets and megakaryocytes.
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044
von Willebrand factor: clinical features of inherited and acquired disorders.
Bloom AL
Mayo Clin Proc 1991 Jul;66(7):743-51. doi: 10.1016/s0025-6196(12)62088-6. PMID: 2072762

Diagnosis

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.
Canault M, Alessi MC
Int J Mol Sci 2020 Feb 6;21(3) doi: 10.3390/ijms21031075. PMID: 32041177Free PMC Article
RASGRP2 gene variations associated with platelet dysfunction and bleeding.
Palma-Barqueros V, Ruiz-Pividal J, Bohdan N, Vicente V, Bastida JM, Lozano M, Rivera J
Platelets 2019;30(4):535-539. Epub 2019 Mar 8 doi: 10.1080/09537104.2019.1585528. PMID: 30849270
Genetics of familial forms of thrombocytopenia.
Balduini CL, Savoia A
Hum Genet 2012 Dec;131(12):1821-32. Epub 2012 Aug 11 doi: 10.1007/s00439-012-1215-x. PMID: 22886561
Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder.
Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186
Overview of platelet physiology and laboratory evaluation of platelet function.
Rodgers GM
Clin Obstet Gynecol 1999 Jun;42(2):349-59. doi: 10.1097/00003081-199906000-00019. PMID: 10370853

Therapy

Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder.
Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186

Prognosis

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.
Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603

Clinical prediction guides

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.
Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603

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    Related information

    • ClinVar
      Related medical variations
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    • GTR(Clinical)
      Clinical tests in GTR
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