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GENATLAS PHENOTYPE
last update : 29-01-2009
Symbol RIEG1
Location 4q25
Name Axenfeld-Rieger syndrome 1
Other name(s)
  • Rieger syndrome
  • ocular anterior segment mesenchymal dysgenesis (Peters anomaly)
  • iridogoniodysgenesis with somatic anomalies
    • Corresponding gene PITX2
    Other symbol(s) RGSCR, SOLSH, ASMDR1, ARS
    Main clinical features
  • posterior embryotoxon, iris stromal hypoplasia and abnormalities of pupil shape (corectopia) and number (polycoria) and secundary glaucoma in about 50 percent of patients
  • associated with other anomalies, most frequently anodontia/hypodontia, maxillary hypoplasia, umbilical hernia due a failure of involution of periumbilical skin
    • Genetic determination autosomal dominant
    Related entries see also IHG2, RIEG2, AXR1
    Function/system disorder eye
    Type malformation
    Gene product
    Name solurshin, homeo domain encoding gene (PITX2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown disruption of DNA binding or of protein stability
      deletion   cryptic microdeletion involving the PITX2 gene
      translocation   apparently balanced translocation, with possible long-range position effect
    Remark(s) PITX2 is the main causative gene, other associated chromosomal regions are 6p25, 11p13 and 13q14
    Genotype/Phenotype correlations Axenfeld-Rieger syndrome is a term that can be used to describe a variety of overlapping phenotypes : Axenfeld anomaly, Rieger anomaly, Rieger syndrome, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial glaucoma iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition.The single most important feature of these phenotypes is that they confer a 50% or greater risk of developing glaucoma