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GENATLAS PHENOTYPE
last update : 20-03-2015
Symbol AXRI
Location 6p25.3
Name Axenfeld-Rieger syndrome, type 3
Other name(s)
  • Rieger syndrome 3
  • Corresponding gene FOXC1
    Other symbol(s) IRID1, FGI, IGD, IGDA, IGDS, JOAG, ARS1, IHG1, RIEG3
    Main clinical features
  • inherited developmental disorder characterized by an hypoplasia of the anterior iris stroma, microcornea, anterior chamber synechiae, corneal opacity, elevated intraocular pressure and open angle juvenile onset glaucoma
  • Genetic determination autosomal dominant
    Related entries . including cases of isolated iridogoniodysgenesis ( OMIM 601631) and developmental anomalies of the anterior chamber with cleft palate, deafness, cardiac defect and speech delay
    Function/system disorder eye
    Type disease
    Gene product
    Name fork head transcription factor 7 gene FOXC1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function located in alpha-helix 1 of the forkhead domain not affecting nuclear localization of FOXC1, but reducing DNA binding and significantly transactivation
    frameshift   abnormal protein/loss of function  
      deletion   see DEL6PD
    Remark(s)