KEGG   DISEASE: Atrioventricular septal defect
Entry
H00547                      Disease                                

Name
Atrioventricular septal defect;
Atrioventricular canal defect
Description
Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, and atrioventricular valves. The defect is often associated with Down syndrome (trisomy 21).
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the circulatory system
   H00547  Atrioventricular 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
     LA87  Congenital anomaly of an atrioventricular valve or atrioventricular septum
      H00547  Atrioventricular septal defect
Gene
CRELD1 [HSA:78987] [KO:K24335]
GJA1 [HSA:2697] [KO:K07372]
GATA4 [HSA:2626] [KO:K09183]
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: LA87.20
ICD-10: Q21.2
OMIM: 606217 600309 614430 614474
Reference
  Authors
Maslen CL
  Title
Molecular genetics of atrioventricular septal defects.
  Journal
Curr Opin Cardiol 19:205-10 (2004)
DOI:10.1097/00001573-200405000-00003
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:7805255
  Authors
Payne RM, Johnson MC, Grant JW, Strauss AW
  Title
Toward a molecular understanding of congenital heart disease.
  Journal
Circulation 91:494-504 (1995)
DOI:10.1161/01.CIR.91.2.494
Reference
  Authors
Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH
  Title
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
  Journal
Mutat Res 479:173-86 (2001)
DOI:10.1016/S0027-5107(01)00160-9
Reference
  Authors
Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT
  Title
Spectrum of heart disease associated with murine and human GATA4 mutation.
  Journal
J Mol Cell Cardiol 43:677-85 (2007)
DOI:10.1016/j.yjmcc.2007.06.004
Reference
  Authors
Maitra M, Koenig SN, Srivastava D, Garg V
  Title
Identification of GATA6 sequence variants in patients with congenital heart defects.
  Journal
Pediatr Res 68:281-5 (2010)
DOI:10.1203/00006450-201011001-00549
LinkDB

» Japanese version

DBGET integrated database retrieval system