| H01235 | |
| H番号 | H01235 |
| 名称 | 血小板型出血性疾患 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B62 ICD-10: D69.8 OMIM: 609821 614200 614201 614009 615888 616913 617443 615193 187800 187900 616176 618462 619271 |
| 文献 | PMID:12578987 (BDPLT8) 著者 Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM タイトル Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. 雑誌 Proc Natl Acad Sci U S A 100:1978-83 (2003) DOI:10.1073/pnas.0437879100 PMID:19552682 (BDPLT11) 著者 Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K タイトル A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 雑誌 J Thromb Haemost 7:1356-63 (2009) DOI:10.1111/j.1538-7836.2009.03520.x PMID:20162250 (BDPLT8_11_13) 著者 Watson S, Daly M, Dawood B, Gissen P, Makris M, Mundell S, Wilde J, Mumford A タイトル Phenotypic approaches to gene mapping in platelet function disorders - identification of new variant of P2Y12, TxA2 and GPVI receptors. 雑誌 Hamostaseologie 30:29-38 (2010) PMID:23434115 (BDPLT15) 著者 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 タイトル ACTN1 mutations cause congenital macrothrombocytopenia. 雑誌 Am J Hum Genet 92:431-8 (2013) DOI:10.1016/j.ajhg.2013.01.015 PMID:21454453 (BDPLT16) 著者 Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H タイトル Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 雑誌 Blood 117:5479-84 (2011) DOI:10.1182/blood-2010-12-323691 PMID:26287868 (BDPLT17) タイトル A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. 雑誌 N Engl J Med 373:782 (2015) DOI:10.1056/NEJMx150011 PMID:24958846 (BDPLT18) 著者 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 タイトル Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. 雑誌 J Exp Med 211:1349-62 (2014) DOI:10.1084/jem.20130477 PMID:25061177 (BDPLT19) 著者 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 タイトル A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. 雑誌 Blood 124:2554-63 (2014) DOI:10.1182/blood-2014-01-551820 PMID:26280575 (BDPLT20) 著者 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 タイトル SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 雑誌 J Clin Invest 125:3600-5 (2015) DOI:10.1172/JCI80347 PMID:28255014 (BDPLT21) 著者 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 タイトル Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. 雑誌 Haematologica 102:1006-1016 (2017) DOI:10.3324/haematol.2016.153577 PMID:30213874 (BDPLT22) 著者 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 タイトル A mutation of the human EPHB2 gene leads to a major platelet functional defect. 雑誌 Blood 132:2067-2077 (2018) DOI:10.1182/blood-2018-04-845644 PMID:18065693 (BDPLT24) 著者 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 タイトル 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. 雑誌 Blood 111:3407-14 (2008) DOI:10.1182/blood-2007-09-112615 PMID:22133774 (ITGA2) 著者 Kunicki TJ, Williams SA, Diaz D, Farndale RW, Nugent DJ タイトル 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. 雑誌 Haematologica 97:692-5 (2012) DOI:10.3324/haematol.2011.056556 |