Atrioventricular Septal Defect 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

GATA6, GATA4, GJA1, TBX5, TBX1, GDF1, PTPN11, TRIO, WDPCP, SMARCA4, CDC45, HDAC8, ANKRD11, INTU, SMARCAL1, GATA1, NKX2-6, HYLS1, NKX2-5, PUF60, CRELD1, PITX2, BMP2, HEY2, TBX2, BMP4, FOXP1, BAZ2B, ACVR1, CHDH, CHD7, AUTS2, SALL4, MYL7, TAMM41, RBM24, NPNT, IFT172, AVSD1, CEMIP2, MTR, CASP3, RUNX2, ACE, ETV5, HTC2, IL1B, MDM4, NFATC1, IFT27, SLC19A1, SNAI1, SOX9, TFAP2B, ZIC3, HAND2, MED12, NEXMIF

Drugs

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A number sign (#) is used with this entry because of evidence that atrioventricular septal defect-3 (AVSD3) is caused by compound heterozygous mutation in the GJA1 gene (121014) on chromosome 6q22.

For a general phenotypic description and a discussion of genetic heterogeneity of atrioventricular septal defect, see AVSD1 (606215).

Molecular Genetics

In a pediatric heart transplant patient with an atrioventricular canal defect, Dasgupta et al. (2001) identified 4 substitutions in the GJA1 gene: 2 missense mutations and 2 silent polymorphisms (see 121014.0011).