KEGG   DISEASE: H00549Help
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
Developmental disorder; Cardiac diseases
BRITE hierarchy
Pathway
Notch signaling pathway
Gene
NKX2.5 [HSA:1482] [KO:K09345]
JAG1 [HSA:182] [KO:K06052]
ZFPM2 [HSA:23414]
GDF1 [HSA:2657] [KO:K05495]
Env factor
Organic solvents
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:19818949 (gene)
  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)
Reference
PMID:17924340 (gene)
  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)
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)

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