H01235 | |
H number | H01235 |
Name | Bleeding disorder platelet-type |
Description | 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. |
Category | Hematologic disease |
Network | - |
Gene | (BDPLT8) P2RY12 [HSA:64805] [KO:K04298] (BDPLT11) GP6 [HSA:51206] [KO:K06264] (BDPLT13) TBXA2R [HSA:6915] [KO:K04264] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT17) GFI1B [HSA:8328] [KO:K09223] (BDPLT18) RASGRP2 [HSA:10235] [KO:K12361] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT20) SLFN14 [HSA:342618] [KO:K24445] (BDPLT21) FLI1 [HSA:2313] [KO:K09436] (BDPLT22) EPHB2 [HSA:2048] [KO:K05111] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] ITGA2 [HSA:3673] [KO:K06481] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3B62 ICD-10: D69.8 OMIM: 609821 614200 614201 614009 615888 616913 617443 615193 187800 187900 616176 618462 619271 |
Reference | PMID:12578987 (BDPLT8) AUTHORS Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM TITLE Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. JOURNAL Proc Natl Acad Sci U S A 100:1978-83 (2003) DOI:10.1073/pnas.0437879100 PMID:19552682 (BDPLT11) AUTHORS Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K TITLE A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. JOURNAL J Thromb Haemost 7:1356-63 (2009) DOI:10.1111/j.1538-7836.2009.03520.x PMID:20162250 (BDPLT8_11_13) AUTHORS Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A TITLE Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors. JOURNAL Hamostaseologie 30:29-38 (2010) PMID:23434115 (BDPLT15) AUTHORS Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S TITLE ACTN1 mutations cause congenital macrothrombocytopenia. JOURNAL Am J Hum Genet 92:431-8 (2013) DOI:10.1016/j.ajhg.2013.01.015 PMID:21454453 (BDPLT16) AUTHORS Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H TITLE Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. JOURNAL Blood 117:5479-84 (2011) DOI:10.1182/blood-2010-12-323691 PMID:26287868 (BDPLT17) TITLE A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. JOURNAL N Engl J Med 373:782 (2015) DOI:10.1056/NEJMx150011 PMID:24958846 (BDPLT18) AUTHORS 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 TITLE Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. JOURNAL J Exp Med 211:1349-62 (2014) DOI:10.1084/jem.20130477 PMID:25061177 (BDPLT19) AUTHORS Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, Souquere S, Pierron G, Rameau P, Andrews R, Lanza F, Bobe R, Vainchenker W, Rosa JP, Bryckaert M, Debili N, Favier R, Raslova H TITLE A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. JOURNAL Blood 124:2554-63 (2014) DOI:10.1182/blood-2014-01-551820 PMID:26280575 (BDPLT20) AUTHORS 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 TITLE SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. JOURNAL J Clin Invest 125:3600-5 (2015) DOI:10.1172/JCI80347 PMID:28255014 (BDPLT21) AUTHORS 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 TITLE Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. JOURNAL Haematologica 102:1006-1016 (2017) DOI:10.3324/haematol.2016.153577 PMID:30213874 (BDPLT22) AUTHORS Berrou E, Soukaseum C, Favier R, Adam F, Elaib Z, Kauskot A, Bordet JC, Ballerini P, Loyau S, Feng M, Dias K, Muheidli A, Girault S, Nurden AT, Turro E, Ouwehand WH, Denis CV, Jandrot-Perrus M, Rosa JP, Nurden P, Bryckaert M TITLE A mutation of the human EPHB2 gene leads to a major platelet functional defect. JOURNAL Blood 132:2067-2077 (2018) DOI:10.1182/blood-2018-04-845644 PMID:18065693 (BDPLT24) AUTHORS Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH TITLE A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. JOURNAL Blood 111:3407-14 (2008) DOI:10.1182/blood-2007-09-112615 PMID:22133774 (ITGA2) AUTHORS Kunicki TJ, Williams SA, Diaz D, Farndale RW, Nugent DJ TITLE 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. JOURNAL Haematologica 97:692-5 (2012) DOI:10.3324/haematol.2011.056556 |