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GENATLAS PHENOTYPE

last update : 04-07-2017

Symbol	ARCI3
Location	17p13.1
Name	ichthyosis, congenital, autosomal recessive 3
Other name(s)	ichthyosiform erythroderma 3A, congenital, non bullous non-bullous lamellar ichthyosis, 5 ichthyosis congenital IV ichthyosis congenital 5
Corresponding gene	ALOXE3
Other symbol(s)	NCIE3A, LMLI5, LI5, ICR4
Main clinical features	non lysosomal inborn error of neutral lipid metabolism characterized by ichthyosis in an erythema background with fine white scaling, collodion babies at birth, liver steatosis with hepatomegaly lipid droplets in granulocytes and in most tissues also mild form of congenital ichthyosis characterized by small, light brown, and adherent scales on the scalp, dark brown, very hard, and adherent scales on the large skinfolds, such as neck, elbows, and knees
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
	dermatology
Type	disease

Gene product

Name	arachidonate E3-lipoxygenase

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function

Remark(s)