| H01740 | |
| H番号 | H01740 |
| 名称 | 巨大血小板性血小板減少症 |
| 概要 | Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations of MTP-affected individuals vary considerably and range from no symptoms to a severe bleeding tendency. MTP-causing mutations have been reported in several genes, involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Among these, the most common is MYH9, which is responsible for MYH9-related disease. The second most common are GP1BA, GP1BB, and GP, which are responsible for Bernard-Soulier syndrome. |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06515(H01740) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (MATINS) MYH9 [HSA:4627] [KO:K10352] (BSS) GP1BA [HSA:2811] [KO:K06261] (BSS) GP1BB [HSA:2812] [KO:K06262] (BSS) GP9 [HSA:2815] [KO:K06263] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] (STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] (MACTHC1) TUBB1 [HSA:81027] [KO:K07375] (MACTHC2) TUBA8 [HSA:51807] [KO:K07374] GATA1 [HSA:2623] [KO:K09182] VWF [HSA:7450] [KO:K03900] DIAPH1 [HSA:1729] [KO:K05740] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B64.01 ICD-10: D69.6 MeSH: D013921 OMIM: 155100 231200 615193 187800 616176 619271 210250 618666 613112 619840 300367 613554 124900 |
| 文献 | PMID:25944497 (MYH9, BSS) 著者 Favier R, Raslova H タイトル Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias. 雑誌 Br J Haematol 170:626-39 (2015) DOI:10.1111/bjh.13478 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:22102273 (BDPLT16_24) 著者 Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P タイトル Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the alphaIIbbeta3 integrin. 雑誌 Semin Thromb Hemost 37:698-706 (2011) DOI:10.1055/s-0031-1291380 PMID:25323684 (BDPLT19) 著者 Landolt-Marticorena C, Kahr WH タイトル Inherited macrothrombocytopenias on the rise. 雑誌 Blood 124:2473-5 (2014) DOI:10.1182/blood-2014-08-592329 PMID:24166850 (STSL1_2) 著者 Wang Z, Cao L, Su Y, Wang G, Wang R, Yu Z, Bai X, Ruan C タイトル Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. 雑誌 Am J Hematol 89:320-4 (2014) DOI:10.1002/ajh.23619 PMID:18849486 (TUBB1) 著者 Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H タイトル Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. 雑誌 Blood 113:458-61 (2009) DOI:10.1182/blood-2008-06-162610 PMID:34704371 (TUBA8) 著者 Kimmerlin Q, Dupuis A, Bodakuntla S, Weber C, Heim V, Henriot V, Moog S, Eckly A, Gueguen P, Ferec C, Gachet C, Janke C, Lanza F タイトル Mutations in the most divergent alpha-tubulin isotype, alpha8-tubulin, cause defective platelet biogenesis. 雑誌 J Thromb Haemost 20:461-469 (2022) DOI:10.1111/jth.15573 PMID:11809723 (GATA1) 著者 Freson K, Matthijs G, Thys C, Marien P, Hoylaerts MF, Vermylen J, Van Geet C タイトル Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. 雑誌 Hum Mol Genet 11:147-52 (2002) DOI:10.1093/hmg/11.2.147 PMID:19060241 (VWF) 著者 Jackson SC, Sinclair GD, Cloutier S, Duan Z, Rand ML, Poon MC タイトル The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. 雑誌 Blood 113:3348-51 (2009) DOI:10.1182/blood-2008-06-165233 PMID:26912466 (DIAPH1) 著者 Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD タイトル A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 雑誌 Blood 127:2903-14 (2016) DOI:10.1182/blood-2015-10-675629 |