| H00546 | |
| H番号 | H00546 |
| 名称 | 心房中隔欠損 |
| 概要 | Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases have been implicated in the disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (ASD2) GATA4 [HSA:2626] [KO:K09183] (ASD3) MYH6 [HSA:4624] [KO:K17751] (ASD4) TBX20 [HSA:57057] [KO:K10185] (ASD5) ACTC1 [HSA:70] [KO:K12314] (ASD6) TLL1 [HSA:7092] [KO:K09608] (ASD7) NKX2-5 [HSA:1482] [KO:K09345] (ASD8) CITED2 [HSA:10370] [KO:K21361] (ASD9) GATA6 [HSA:2627] [KO:K17897] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA8E ICD-10: Q21.1 MeSH: D006344 OMIM: 108800 607941 614089 611363 612794 613087 108900 614433 614475 |
| 文献 | PMID:20012542 著者 Posch MG, Perrot A, Berger F, Ozcelik C タイトル Molecular genetics of congenital atrial septal defects. 雑誌 Clin Res Cardiol 99:137-47 (2010) DOI:10.1007/s00392-009-0095-0 PMID:11376442 著者 Vaughan CJ, Basson CT タイトル Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. 雑誌 Am J Med Genet 97:304-9 (2000) DOI:10.1002/1096-8628(200024)97:4<304::AID-AJMG1281>3.0.CO;2-# PMID:12845333 (GATA4) 著者 Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D タイトル GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 雑誌 Nature 424:443-7 (2003) DOI:10.1038/nature01827 PMID:15735645 (MYH6) 著者 Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD タイトル Mutation in myosin heavy chain 6 causes atrial septal defect. 雑誌 Nat Genet 37:423-8 (2005) DOI:10.1038/ng1526 PMID:17668378 (TBX20) 著者 Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP タイトル Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. 雑誌 Am J Hum Genet 81:280-91 (2007) DOI:10.1086/519530 PMID:17947298 (ACTC1) 著者 Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegardh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N タイトル Alpha-cardiac actin mutations produce atrial septal defects. 雑誌 Hum Mol Genet 17:256-65 (2008) DOI:10.1093/hmg/ddm302 PMID:18830233 (TLL1) 著者 Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL タイトル Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. 雑誌 Eur J Hum Genet 17:344-51 (2009) DOI:10.1038/ejhg.2008.175 PMID:9651244 (NKX2-5) 著者 Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG タイトル Congenital heart disease caused by mutations in the transcription factor NKX2-5. 雑誌 Science 281:108-11 (1998) DOI:10.1126/science.281.5373.108 PMID:16287139 (CITED2) 著者 Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S タイトル Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 雑誌 Hum Mutat 26:575-82 (2005) DOI:10.1002/humu.20262 PMID:20631719 (GATA6) 著者 Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH タイトル A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 雑誌 J Hum Genet 55:662-7 (2010) DOI:10.1038/jhg.2010.84 |