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References OMIM Gene GeneReviews HGMD HGNC
last update : 12/07/2006
Symbol CHRPE
Location 5q22.2
Name retinal pigment epithelium, congenital hypertrophy
Corresponding gene APC
Other symbol(s) GS,TCTS
Main clinical features
  • congenital hypertrophy of the retinal pigment epithelium (CHRPE) is the most common extracolonic manifestation of familial adenomatous polyposis (FAP) and is an early clinical marker of the disease
  • Genetic determination
    Related entries FAP
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene product
    Name DP2.5, adenomatous polyposis coli gene
    Genotype/Phenotype correlations the site of APC gene mutation influences CHRPE expression but is not the only factor responsible for the presence and level of retinal lesions in FAP patients.