Bleeding disorder platelet-type

Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these disorders are associated with mutations in key platelet activation receptors, namely those for ADP, collagen and thromboxane A2.

Hematologic disease

P2RY12 [HSA:64805] [KO:K04298]
ITGA2 [HSA:3673] [KO:K06481]
GP6 [HSA:51206] [KO:K06264]
TBXA2R [HSA:6915] [KO:K04264]
RASGRP2 [HSA:10235] [KO:K12361]
SLFN14 [HSA:342618]
FLI1 [HSA:2313] [KO:K09436]

See also H01740 Macrothrombocytopenia.

PMID:12578987

Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM

Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.

Proc Natl Acad Sci U S A 100:1978-83 (2003)
DOI:10.1073/pnas.0437879100

PMID:19552682

Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.

J Thromb Haemost 7:1356-63 (2009)
DOI:10.1111/j.1538-7836.2009.03520.x

PMID:20162250

Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A

Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors.

Hamostaseologie 30:29-38 (2010)

PMID:24958846

Canault M, Ghalloussi D, Grosdidier C, Guinier M, Perret C, Chelghoum N, Germain M, Raslova H, Peiretti F, Morange PE, Saut N, Pillois X, Nurden AT, Cambien F, Pierres A, van den Berg TK, Kuijpers TW, Alessi MC, Tregouet DA

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.

J Exp Med 211:1349-62 (2014)
DOI:10.1084/jem.20130477

PMID:26280575

Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidze M, Guiu IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

J Clin Invest 125:3600-5 (2015)
DOI:10.1172/JCI80347

PMID:28255014

Saultier P, Vidal L, Canault M, Bernot D, Falaise C, Pouymayou C, Bordet JC, Saut N, Rostan A, Baccini V, Peiretti F, Favier M, Lucca P, Deleuze JF, Olaso R, Boland A, Morange PE, Gachet C, Malergue F, Faure S, Eckly A, Tregouet DA, Poggi M, Alessi MC

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.

Haematologica 102:1006-1016 (2017)
DOI:10.3324/haematol.2016.153577

PMID:22133774

Kunicki TJ, Williams SA, Diaz D, Farndale RW, Nugent DJ

Platelet adhesion to decorin but not collagen I correlates with the integrin alpha2 dimorphism E534K, the basis of the human platelet alloantigen (HPA)-5 system.

Haematologica 97:692-5 (2012)
DOI:10.3324/haematol.2011.056556