KEGG DISEASE: Tetralogy of Fallot

DISEASE: Tetralogy of Fallot

Entry

H00549                      Disease

Name

Tetralogy of Fallot

Description

The four classic features of tetralogy of Fallot (TOF) are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. These cardiac abnormalities are resulted from altered neural crest migration during embryogenesis.

Category

Congenital malformation

Brite

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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06511  NOTCH signaling
   H00549  Tetralogy of Fallot

Pathway

hsa04330

Notch signaling pathway

Network

nt06511 NOTCH signaling

Gene

NKX2-5 [HSA:1482] [KO:K09345]
JAG1 [HSA:182] [KO:K06052]
ZFPM2 [HSA:23414] [KO:K17442]
GATA4 [HSA:2626] [KO:K09183]
GATA6 [HSA:2627] [KO:K17897]
TBX1 [HSA:6899] [KO:K10175]
GDF1 [HSA:2657] [KO:K05495]

Drug

Alprostadil [DR:D00180]

Other DBs

ICD-11:

LA88.2

MeSH:

D013771

OMIM:

187500

Reference

PMID:17519397

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:19818949

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

PMID:10587520 (NKX2-5)

Authors

Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD

Title

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

Journal

J Clin Invest 104:1567-73 (1999)
DOI:10.1172/JCI8154

Reference

PMID:11152664 (JAG1)

Authors

Eldadah ZA, Hamosh A, Biery NJ, Montgomery RA, Duke M, Elkins R, Dietz HC

Title

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Journal

Hum Mol Genet 10:163-9 (2001)
DOI:10.1093/hmg/10.2.163

Reference

PMID:14517948 (ZFPM2)

Authors

Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B

Title

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.

Journal

Hum Mutat 22:372-7 (2003)
DOI:10.1002/humu.10261

Reference

PMID:18055909 (GATA4)

Authors

Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E

Title

GATA4 sequence variants in patients with congenital heart disease.

Journal

J Med Genet 44:779-83 (2007)
DOI:10.1136/jmg.2007.052183

Reference

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

Reference

PMID:19948535 (TBX1)

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

Reference

PMID:17924340 (GDF1)

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
All databases (1)   

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