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GENATLAS PHENOTYPE

last update : 06/07/07

Symbol	CORD5
Location	17p13.1-p13
Name	retinal cone-rod dystrophy 5
Corresponding gene	PITPNM3 , GUCY2D
related resource	Retinal Information Network
Other symbol(s)	CACD
Main clinical features	central areolar choroidal dystrophy, with progressive profound loss of vision, during middle age
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			Q626H mostly frequent

Remark(s)