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GENATLAS PHENOTYPE
last update : 24/03/2010
Symbol IRID1
Location 6p25.3
HGNC id 3800
Name Iridogoniodysgenesis, type 1
Corresponding gene FOXC1
Main clinical features
  • aniridia and congenital glaucoma
  • iris hypoplasia, goniodysgenesis, and juvenile glaucoma
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name forkhead box C1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function protein aggregates in the cytoplasm
    Remark(s)