KEGG   DISEASE: Atrial septal defect
Entry
H00546                      Disease                                

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
Developmental disorder; Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00546  Atrial septal defect
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart or great vessels
     LA8E  Congenital anomaly of atrial septum
      H00546  Atrial septal defect
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]
Env factor
Organic solvents
Anticonvulsants
Ibuprofen [CPD:C01588]
Sulfasalazine [CPD:C07316]
Thalidomide [CPD:C07910]
Trimethoprim-sulfonamide
Retinoic acid [CPD:C00777]
Maternal phenylketonuria
Maternal progestational diabetes
Maternal febrile illness
Maternal influenza
Maternal rubella
Maternal epilepsy
Other DBs
ICD-11: LA8E
ICD-10: Q21.1
MeSH: D006344
OMIM: 108800 607941 614089 611363 612794 613087 108900 614433 614475
Reference
  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
Reference
  Authors
Vaughan CJ, Basson CT
  Title
Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.
  Journal
Reference
PMID:17519397 (env_factor)
  Authors
Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL
  Title
Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
  Journal
Circulation 115:2995-3014 (2007)
DOI:10.1161/CIRCULATIONAHA.106.183216
Reference
PMID:1397217 (env_factor)
  Authors
Tikkanen J, Heinonen OP
  Title
Risk factors for atrial septal defect.
  Journal
Eur J Epidemiol 8:509-15 (1992)
DOI:10.1007/BF00146368
Reference
  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
Reference
  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
Reference
  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
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