Anus, Imperforate

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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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Weinstein (1965) reported 3 families with multiple affected males in a pattern strongly suggesting X-linked recessive inheritance. In a later paper, Winkler and Weinstein (1970) described 2 families, each with 2 sisters with imperforate anus and/or ectopic anus (rectovaginal fistula). They then proposed autosomal recessive inheritance for some cases (see 207500). Bensen and Burton (1989) reported a family in which imperforate anus with or without hypospadias occurred in 4 males in 3 sibships of 2 generations, the males being connected through presumed carrier females. In addition, 1 male, the son of a sister of an affected male, had hypospadias only. Hearing loss was found in 3 of the 4 males with imperforate anus and in 2 of the presumptive carrier females.