| H00546 | |
| H number | H00546 |
| Name | Atrial septal defect |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA8E ICD-10: Q21.1 MeSH: D006344 OMIM: 108800 607941 614089 611363 612794 613087 108900 614433 614475 |
| Reference | PMID:20012542 AUTHORS Posch MG, Perrot A, Berger F, Ozcelik C TITLE Molecular genetics of congenital atrial septal defects. JOURNAL Clin Res Cardiol 99:137-47 (2010) DOI:10.1007/s00392-009-0095-0 PMID:11376442 AUTHORS Vaughan CJ, Basson CT TITLE Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. JOURNAL 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) AUTHORS 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 TITLE GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. JOURNAL Nature 424:443-7 (2003) DOI:10.1038/nature01827 PMID:15735645 (MYH6) AUTHORS 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 TITLE Mutation in myosin heavy chain 6 causes atrial septal defect. JOURNAL Nat Genet 37:423-8 (2005) DOI:10.1038/ng1526 PMID:17668378 (TBX20) AUTHORS 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 TITLE Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. JOURNAL Am J Hum Genet 81:280-91 (2007) DOI:10.1086/519530 PMID:17947298 (ACTC1) AUTHORS 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 TITLE Alpha-cardiac actin mutations produce atrial septal defects. JOURNAL Hum Mol Genet 17:256-65 (2008) DOI:10.1093/hmg/ddm302 PMID:18830233 (TLL1) AUTHORS Stanczak P, Witecka J, Szydlo A, Gutmajster E, Lisik M, Augusciak-Duma A, Tarnowski M, Czekaj T, Czekaj H, Sieron AL TITLE Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. JOURNAL Eur J Hum Genet 17:344-51 (2009) DOI:10.1038/ejhg.2008.175 PMID:9651244 (NKX2-5) AUTHORS Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG TITLE Congenital heart disease caused by mutations in the transcription factor NKX2-5. JOURNAL Science 281:108-11 (1998) DOI:10.1126/science.281.5373.108 PMID:16287139 (CITED2) AUTHORS Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S TITLE Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. JOURNAL Hum Mutat 26:575-82 (2005) DOI:10.1002/humu.20262 PMID:20631719 (GATA6) AUTHORS Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH TITLE A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. JOURNAL J Hum Genet 55:662-7 (2010) DOI:10.1038/jhg.2010.84 |