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Bernard-Soulier syndrome type C

MedGen UID:
344735
•Concept ID:
C1856448
•
Disease or Syndrome
Synonym: Bernard-Soulier Syndrome, Type C
 
OMIM®: 173515; 231200

Recent clinical studies

Etiology

Hemostatic defects in Thai adolescents with menorrhagia.
Hutspardol S, Sirachainan N, Soisamrong A, Atchararit N, O-Prasertsawat P, Chuansumrit A
J Med Assoc Thai 2010 Apr;93(4):436-42. PMID: 20462086
Inherited defects in platelet signaling mechanisms.
Rao AK, Jalagadugula G, Sun L
Semin Thromb Hemost 2004 Oct;30(5):525-35. doi: 10.1055/s-2004-835673. PMID: 15497095

Diagnosis

The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
Leinøe E, Brøns N, Rasmussen AØ, Gabrielaite M, Zaninetti C, Palankar R, Zetterberg E, Rosthøj S, Ostrowski SR, Rossing M
J Thromb Haemost 2021 Nov;19(11):2884-2892. Epub 2021 Aug 11 doi: 10.1111/jth.15479. PMID: 34333846Free PMC Article
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.
Andres O, Henning K, Strauß G, Pflug A, Manukjan G, Schulze H
Platelets 2018 Jun;29(4):347-356. Epub 2017 Dec 11 doi: 10.1080/09537104.2017.1386297. PMID: 29227167
Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.
Naz A, Jamal MY, Amanat S, Din Ujjan I, Najmuddin A, Patel H, Raziq F, Ahmed N, Imran A, Shamsi TS
Orphanet J Rare Dis 2017 Apr 7;12(1):66. doi: 10.1186/s13023-017-0620-6. PMID: 28388959Free PMC Article
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
Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood.
Montgomery RR, Kunicki TJ, Taves C, Pidard D, Corcoran M
J Clin Invest 1983 Feb;71(2):385-9. doi: 10.1172/jci110780. PMID: 6822670Free PMC Article

Clinical prediction guides

Hemostatic defects in Thai adolescents with menorrhagia.
Hutspardol S, Sirachainan N, Soisamrong A, Atchararit N, O-Prasertsawat P, Chuansumrit A
J Med Assoc Thai 2010 Apr;93(4):436-42. PMID: 20462086
C-terminal peptide of thrombospondin-1 induces platelet aggregation through the Fc receptor gamma-chain-associated signaling pathway and by agglutination.
Tulasne D, Judd BA, Johansen M, Asazuma N, Best D, Brown EJ, Kahn M, Koretzky GA, Watson SP
Blood 2001 Dec 1;98(12):3346-52. doi: 10.1182/blood.v98.12.3346. PMID: 11719373
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
Kenny D, Jónsson OG, Morateck PA, Montgomery RR
Blood 1998 Jul 1;92(1):175-83. PMID: 9639514

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