Glaucoma 3, Primary Congenital, C

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CYP1B1, MYOC, LTBP2, GLIS3, TEK, FOXC1, PITX2, ADAMTSL1, PAX6, OCRL, SH3PXD2B, FUT8, LARGE1, CHST3, RNASEH2A, SAMHD1, POMT1, TREX1, NCAPG2, B3GAT3, POMT2, AKT1, POMGNT1, IFIH1, FKRP, RNASEH2B, RNASEH2C, CANT1, ATOH7, TWIST1, ADAR, SRY, MAB21L1, FOXE3, FGFR2, GNAQ, FKTN, DAG1, FLNA, PTEN, PYCR1, PXDN, CYP2B6, GPATCH3, ARSD, ARHGAP1, AR, FOXC2, GDAP1, NUFIP2, GJA1, TYR, GLC3B, LGALS7, LTBP3, PLXNA2, VAV3, KMT2B, KMT2D, LGALS7B

Drugs

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For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300).

Mapping

In a 5-generation consanguineous Turkish family with PCG unlinked to both congenital glaucoma loci GLC3A and GLC3B (600975), Stoilov and Sarfarazi (2002) used genomewide screening, saturation mapping, and haplotype analysis including markers D14S61 and D14S1000 to identify a region of homozygosity defined by markers D14S42, D14S983, D14S1020 and D14S74 in all affected individuals. All markers segregated perfectly with the disease phenotype. The data suggested that a PCG locus (GLC3C) is located on chromosome 14q24.3 within a region of 2.9 cM that is flanked by markers D14S61 and D14S1000.