KEGG   DISEASE: Congenital heart defects, multiple type
H02199                      Disease                                
Congenital heart defects, multiple type
Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood that abnormal cardiovascular development during embryogenesis may be attributed to an aberrant biological process that is heterogeneous and complex, with both environmental and genetic risk factors involved.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the circulatory system
   H02199  Congenital heart defects, multiple type
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
     LA8Y  Other specified structural developmental anomaly of heart or great vessels
      H02199  Congenital heart defects, multiple type
(CHTD1) ZIC3 [HSA:7547] [KO:K18487]
(CHTD2) TAB2 [HSA:23118] [KO:K04404]
(CHTD4) NR2F2 [HSA:7026] [KO:K08548]
(CHTD5) GATA5 [HSA:140628] [KO:K17896]
(CHTD6) GDF1 [HSA:2657] [KO:K05495]
(CHTD7) FLT4 [HSA:2324] [KO:K05097]
Other DBs
ICD-11: LA8Y
ICD-10: Q24
MeSH: D006330
OMIM: 306955 614980 615779 617912 613854 618780
PMID:14681828 (ZIC3)
Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
Am J Hum Genet 74:93-105 (2004)
PMID:20493459 (TAB2)
Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Am J Hum Genet 86:839-49 (2010)
PMID:24702954 (NR2F2)
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF, Wilson DI, Mital S, Hurles ME
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet 94:574-85 (2014)
PMID:23031282 (GATA5)
Jiang JQ, Li RG, Wang J, Liu XY, Xu YJ, Fang WY, Chen XZ, Zhang W, Wang XZ, Yang YQ
Prevalence and spectrum of GATA5 mutations associated with congenital heart disease.
Int J Cardiol 165:570-3 (2013)
PMID:17924340 (GDF1)
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
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
Am J Hum Genet 81:987-94 (2007)
PMID:30232381 (FLT4)
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Genet Med 21:1001-1007 (2019)

» Japanese version

DBGET integrated database retrieval system