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GENATLAS PHENOTYPE

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
	eye
Type	disease

Gene product

Name	DP2.5, adenomatous polyposis coli gene

Remark(s)

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.