| H00237 | |
| H番号 | H00237 |
| 名称 | ダイアモンド・ブラックファン貧血 |
| 概要 | Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors. |
| カテゴリ | リボソーム病 |
| ネットワーク | - |
| 病因遺伝子 | (DBA) RPS19 [HSA:6223] [KO:K02966] (DBA3) RPS24 [HSA:6229] [KO:K02974] (DBA4) RPS17 [HSA:6218] [KO:K02962] (DBA5) RPL35A [HSA:6165] [KO:K02917] (DBA6) RPL5 [HSA:6125] [KO:K02932] (DBA7) RPL11 [HSA:6135] [KO:K02868] (DBA8) RPS7 [HSA:6201] [KO:K02993] (DBA9) RPS10 [HSA:6204] [KO:K02947] (DBA10) RPS26 [HSA:6231] [KO:K02976] (DBA11) RPL26 [HSA:6154] [KO:K02898] (DBA12) RPL15 [HSA:6138] [KO:K02877] (DBA13) RPS29 [HSA:6235] [KO:K02980] (DBA14) TSR2 [HSA:90121] [KO:K14800] (DBA15) RPS28 [HSA:6234] [KO:K02979] (DBA16) RPL27 [HSA:6155] [KO:K02901] (DBA17) RPS27 [HSA:6232] [KO:K02978] (DBA18) RPL18 [HSA:6141] [KO:K02883] (DBA19) RPL35 [HSA:11224] [KO:K02918] (DBA20) RPS15A [HSA:6210] [KO:K02957] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A60.1 ICD-10: D61.0 MeSH: D029503 OMIM: 105650 610629 612527 612528 612561 612562 612563 613308 613309 614900 615550 615909 300946 606164 617408 617409 618310 618312 618313 |
| 文献 | PMID:18671700 著者 Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM タイトル Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. 雑誌 Br J Haematol 142:859-76 (2008) DOI:10.1111/j.1365-2141.2008.07269.x PMID:17164339 著者 Flygare J, Karlsson S タイトル Diamond-Blackfan anemia: erythropoiesis lost in translation. 雑誌 Blood 109:3152-4 (2007) DOI:10.1182/blood-2006-09-001222 PMID:16942586 著者 Gazda HT, Sieff CA タイトル Recent insights into the pathogenesis of Diamond-Blackfan anaemia. 雑誌 Br J Haematol 135:149-57 (2006) DOI:10.1111/j.1365-2141.2006.06268.x PMID:20116044 著者 Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT タイトル Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 雑誌 Am J Hum Genet 86:222-8 (2010) DOI:10.1016/j.ajhg.2009.12.015 PMID:23812780 著者 Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT タイトル Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 雑誌 Hum Genet 132:1265-74 (2013) DOI:10.1007/s00439-013-1326-z PMID:24829207 著者 Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA タイトル Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 雑誌 Blood 124:24-32 (2014) DOI:10.1182/blood-2013-11-540278 PMID:24942156 著者 Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K タイトル Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 雑誌 Am J Med Genet A 164A:2240-9 (2014) DOI:10.1002/ajmg.a.36633 PMID:28280134 著者 Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA タイトル Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 雑誌 J Med Genet 54:417-425 (2017) DOI:10.1136/jmedgenet-2016-104346 PMID:27909223 著者 Ikeda F, Yoshida K, Toki T, Uechi T, Ishida S, Nakajima Y, Sasahara Y, Okuno Y, Kanezaki R, Terui K, Kamio T, Kobayashi A, Fujita T, Sato-Otsubo A, Shiraishi Y, Tanaka H, Chiba K, Muramatsu H, Kanno H, Ohga S, Ohara A, Kojima S, Kenmochi N, Miyano S, Ogawa S, Ito E タイトル Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 雑誌 Haematologica 102:e93-e96 (2017) DOI:10.3324/haematol.2016.153932 |