Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ENAM, LTBP3, FAM83H, AMTN, MMP20, PEX1, WDR72, TUFT1, COL17A1, RELT, ITGB4, LAMC2, PEX26, TMEM165, KCNJ1, AMELX, AMELY, AMBN, KLK4, FAM20A, DLX3, CNNM4, LAMB3, ITGB6, STIM1, ORAI1, SLC24A4, ODAPH, ACP4, SLC10A7, ROGDI, SLC13A5, LAMA3, DNAJC21, MMP25, TP63, CKAP4, SLC24A3, FAM20C, CLDN19, CRX, CLDN16, HEXIM1, CSNK1G2, CSNK1G3, DSPP, GH1, HPX, HTN1, MSX2, NHS, COL1A2, RPGR, RPE65, UVRAG, VIS1, GPR68, CSNK1D, BMP4, ARHGAP6, ADAM10

Drugs

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For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see 301200.

Mapping

See 301200 for description of findings in a family suggesting that one form of amelogenesis imperfecta is determined by a mutation in a gene in the Xq22-q28 region (Aldred et al., 1992). This gene may be another reflection of homeology of portions of the 2 arms of the X chromosome resulting from an ancient duplication.