KEGG   DISEASE: Tetralogy of Fallot
Entry
H00549                      Disease                                

Name
Tetralogy of Fallot
Description
The four classic features of tetralogy of Fallot are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overrinding aorta. These cardiac abnormalities are resulted from altered neural crest migration during embryogenesis.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the circulatory system
   H00549  Tetralogy of Fallot
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
     LA88  Congenital anomaly of a ventricle or the ventricular septum
      H00549  Tetralogy of Fallot
Related
pathway
hsa04330  Notch signaling pathway
Gene
NKX2.5 [HSA:1482] [KO:K09345]
JAG1 [HSA:182] [KO:K06052]
ZFPM2 [HSA:23414] [KO:K17442]
GDF1 [HSA:2657] [KO:K05495]
GATA4 [HSA:2626] [KO:K09183]
GATA6 [HSA:2627] [KO:K17897]
TBX1 [HSA:6899] [KO:K10175]
Env factor
Organic solvents
Drug
Alprostadil [DR:D00180]
Other DBs
ICD-11: LA88.2
ICD-10: Q21.3
MeSH: D013771
OMIM: 187500
Reference
  Authors
Di Felice V, Zummo G
  Title
Tetralogy of fallot as a model to study cardiac progenitor cell migration and differentiation during heart development.
  Journal
Trends Cardiovasc Med 19:130-5 (2009)
DOI:10.1016/j.tcm.2009.07.004
Reference
  Authors
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M
  Title
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
  Journal
Am J Hum Genet 81:987-94 (2007)
DOI:10.1086/522890
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
  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
Reference
  Authors
Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A
  Title
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
  Journal
J Med Genet 47:321-31 (2010)
DOI:10.1136/jmg.2009.070391
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