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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-10-2018
Symbol CTPP2
Location 10q24.32
HGNC id 9006
Name cataract, posterior polar 2
Other name(s)
  • cataract 11, multiple types
  • Corresponding gene PITX3
    Other symbol(s) CTRCT11
    Main clinical features cataract associated or not with anterior segment mesenchymal dysgenesis
    Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein 542delC deletion resulting in a frameshift in codon 181 (PMID:21633712)
    Genotype/Phenotype correlations homozygozity for the mutationassociated with a more severe phenotype, with in addition to posterior polar cataract, severe bilateral microphthalmia, blindness, a neurologic disorder characterized by mental retardation, choreiform movements, and increased muscle tone and decreased deep tendon reflexes of the lower extremities