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GENATLAS PHENOTYPE
last update : 07-01-2014
Symbol CPP2
Location 11q23.1
Name cataract posterior, polar congenital 2
Other name(s)
  • cataract 16, multiple types
    • Corresponding gene CRYAB
    Other symbol(s) CTPP2, CTRCT16
    Main clinical features
  • congenital posterior polar, lamellar, cataract, opacity bilateral consisted of a single well-defined plaque confined to the posterior pole of the lens
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name crystallin, alphaB
    Remark(s)
    Genotype/Phenotype correlations missense mutation in the third exon of the alphaB-crystallin gene in congenital lamellar cataract family