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GENATLAS PHENOTYPE

last update : 04-07-2017

Symbol	ARCI13
Location	19q13.33
Name	congenital ichthyosis, autosomal recessive 13
Corresponding gene	SULT2B1
Main clinical features	generalized scaling, hypohidrosis and palmo-plantar hyperlinearity although presentation and severity may vary significantly; large number of affected individuals present with collodion membrane at birth, and in the most severe and fatal form of the disease, the neonates are born covered with thick, hard, armor-like plates of cornified skin
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)

. loss of SULT2B1 also affects the proper expression of cornified envelope proteins such as loricrin, involucrin, and filaggrin and impairs the differentiation process in human skin (PMID: 28575648)) mutated SULT2B1 causes imbalance in cholesterol metabolism (PMID: 28575648))