Anus, Imperforate

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

GLI3, CDX1, MNX1, EDNRB, INTU, HHIP, CCNQ, FAM110B, MED12, FNBP1, EAF1, PROK1, DESI2, NLGN1, SIL1, AMOTL1, SGCD, SOX4, STIM1, TLR1, TTC7A, ZIC3, CASK, SOX6, TBC1D4, RCSD1, MYCN, MPRIP, RFX6, CDH18

GLI3, CDX1, MNX1, EDNRB, INTU, HHIP, CCNQ, FAM110B, MED12, FNBP1, EAF1, PROK1, DESI2, NLGN1, SIL1, AMOTL1, SGCD, SOX4, STIM1, TLR1, TTC7A, ZIC3, CASK, SOX6, TBC1D4, RCSD1, MYCN, MPRIP, RFX6, CDH18, CDK8, DKK4, CTNND2, WDPCP, TNNI3K, JAK2, ECSIT, FANCB, FOXF1, LCA5, TTLL9, BMP4, FGFR2, SHH, HOXD13, HOXA13, DKC1, NOP10, CHN1, NHP2, WRAP53, TERT, CTC1, TERC, TINF2, PARN, COL25A1, USB1, RTEL1, MAFB, GLI2, WIF1, BCL2, PIGV, WNT3A, CTNNB1, RARA, NUFIP2, EBF2, MYH14, ARMC9, FREM1, LHFPL5, MIR125B2, MIR92A2, MIR99A, CDC45, FOXD3, KIT, P2RY2, NEUROD2, MYC, MTHFR, MSX2, SMAD1, GLI1, PDGFRA, FOXD4, FGF10, FGF9, ENO2, ELAVL4, EFNB2, PCSK5, PTCH1, RPL13A, MKKS, UBR4, DKK1, CKAP4, AKR1A1, TBX4, TP63, UVRAG, RET, TP53, S100B, S100A1, RPS18, RPLP1, RPE65, MIR342

Drugs

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Families with multiple affected sibs, both male and female, have been reported (Van Gelder and Kloepfer, 1961; Winkler and Weinstein, 1970). See 301800. Soussou et al. (1974) reported 3 affected sisters, but favored multifactorial inheritance.