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GENATLAS PHENOTYPE

last update : 10-04-2019

Symbol	APKC
Location	1p33
Name	aphakia, congenital primary
Other name(s)	congenital primary aphakia
Corresponding gene	FOXE3
Other symbol(s)	CPA
Main clinical features	characterized by absence of the lens, leading to complete aplasia of the anterior segment of the eye broad spectrum of eye anomalies, largely, but not exclusively related to lens development, with sclerocornea , and at MRI, the patients with sclerocornea were also aphakic, had microphthalmia and some had optic disc coloboma (PMID: 20664696)) also isolated nonsyndromic autosomal recessive bilateral microphthalmia
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	eye
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense			outside the forkhead domain, included in a motif probably important for the normal function

Remark(s)