Atrial Septal Defect 8

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

NKX2-5, PQBP1, GATA4, MYH6, GABRQ, MYT1L, TRIP12, CCN1, NTF3, ACTC1, FOXC1, TBX5, TLL1, PTPN11, PTEN, BMPR1A, SALL4, COMT, NODAL, EVC, B3GLCT, MAP2K1, GATA6, TTN, SHANK3, TRIP13, ABL1, BUB3, SMC3, BAZ1B, CDC45, ARID1A, NAA10, SMC1A, CDK13, SEC24C, EFTUD2, LONP1, ZMPSTE24, GPC6, MED12, RBM8A, WASHC5, FIG4, ZEB2, KIAA0586, TMEM94, SEMA3E, CEP57, TTC37, USP9X, GTF2IRD1, TBX4, RBM10, WT1, MKKS, KMT2D, SOS1, SON, SNRPB, SMN1, SMARCE1, SKIV2L, SCN4A, SALL1, RREB1, RPS17, RPL27, RPL5, RIT1, RFC2, RAF1, STK4, ABCC8, TALDO1, NELFA, SHOC2, KAT6A, PCGF2, ZIC3, XRCC2, CITED2, NSD2, TBX1, CLIP2, KDM6A, UFD1, HIRA, NKX2-1, TBX2, TRAIP, MRAS, MAD2L2, UPF3B, UBE3B, TMEM87B, SLX4, PHF6, BRIP1, CEP290, PALB2, NXN, VAC14, NSD1, STRA6, XYLT2, FANCM, ARHGAP31, ARID1B, KIF15, NEK9, G6PC3, CHST14, MMP21, TTN-AS1, RNU4ATAC, DIPK1A, CTU2, KANSL1, JMJD1C, UBR1, ASXL1, ESCO2, CEP120, CCBE1, GATA5, AMER1, EVC2, B3GALT6, HDAC8, CHD7, SLC19A2, PIGN, TBL2, VPS33B, AUTS2, SETBP1, C2CD3, SH2B1, NIPBL, KAT6B, ASXL2, HAAO, TGDS, SIK3, SPECC1L, RAD51, TXNL4A, KDM5B, NPHP3, CCDC22, UBE2T, SLC25A24, FANCI, SETD5, RFWD3, FANCL, AGGF1, BCOR, NDUFB11, TMCO1, RAB23, OTUD6B, DYNC2LI1, LARP7, DACT1, ZDHHC9, TBX22, RAD51C, STIM1, RAD21, FOXF1, ERCC4, FANCA, FANCC, FANCD2, FANCE, FANCB, FANCF, FANCG, FBN2, FKTN, GPC4, FGFR1, PEX19, FGFR2, FLNB, LETM1, GDF1, GJA1, GPC3, GLI1, GLI3, GP1BB, GPX4, GTF2I, HCCS, HNRNPK, HRAS, HSPA9, HSPG2, KIF11, EP300, ELN, ECE1, DNMT3A, ACTL6A, JAG1, ANK1, ARSD, ARVCF, ATIC, RERE, ATP6V1A, ATP6V1E1, BCR, BMP2, BRCA1, BRAF, BRCA2, BUB1, BUB1B, MYRF, TMEM258, LYST, CHRM3, COL1A1, COL5A1, COL5A2, COX7B, CREBBP, CRKL, CYP11A1, DHCR7, DMD, KRAS, FGFR3, MYH7, MASP1, KMT2A, MMP2, MAP2K2, MMP14, MAPK1, MMUT, NFIX, NOTCH2, LMNA, POR, ROR2, POLA1, PAX3, PCNT, PIGA, PIK3R2, LIMK1, MEIS2, PITX2, SMS, RSS, TBX20, CYP11B2, ACTA2, IL1B, IL18, CRP, WNT1, CNTNAP2, BMP4, CYP1B1, MTHFR, STX18, BDNF, MSX1, SHANK2, ASNS, ACTB, CNTNAP3, MIR499A, ELMOD3, PITX3, SOD1, SIL1, SNAP25, ARSA, MIR486-1, CACNA1C, CAPG, EBPL, LGALS7B, CAT, CCNA2, CDH11, SHROOM3, NUFIP2, POMC, FOXL2, ADO, TARP, ANGPT2, PSD, SLFN14, MAPK3, PTH, SAA1, SAA2, ACTN4, OSR1, RBM45, MIRLET7B, OPN1SW, ACTA1, MIR139, SCN2A, MIR27A, SYTL4, PPP3CA, NEXN, BMPR2, LBX2, RELN, MDD1, LGALS7, CYP2E1, RTN4, COL4A1, HEY2, ZFPM2, MSX2, FOXE3, KDM4C, FMR1, PHB2, WDHD1, MMP3, DGCR6, LZTR1, TSHZ1, GRM5, GRM7, MEFV, MECP2, HLA-DRB1, SMAD4, LRPAP1, AXIN1, HTC2, IL1A, IL4, IL6, CXCL8, ISL1, KLRC2, MYBPC3, VEGFA, NOS3, TGFB1, PCDHGA4, CFC1, CDKL5, PCYT1A, SYN2, CHDH, NRP1, PAX6, HYDIN, PCSK6, DMPK, ARID4B, DPYSL3, PHGDH, TGFBR2, EFNB1, ELK3, PLAC8, OPRD1, TNF, F2, TNFRSF1A, INTU, NPPA, NOTCH3, SUMO1, CERNA3

Drugs

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A number sign (#) is used with this entry because of evidence that atrial septal defect-8 (ASD8) can be caused by heterozygous mutation in the CITED2 gene (602937) on chromosome 6q23.3.

For discussion of genetic heterogeneity of atrial septal defect, see ASD1 (108800).

Molecular Genetics

Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects and 192 controls for mutations in the CITED2 gene and identified a 27-bp insertion (602937.0002) in a patient with a secundum atrial septal defect, and a 6-bp deletion (602937.0003) in a patient with a sinus venosus atrial septal defect and abnormal pulmonary venous return to the right atria. Functional analysis of the mutations, which were not found in controls, revealed that both significantly reduced the capacity of CITED2 to transrepress HIF1A (603348).