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References OMIM Gene GeneReviews HGMD HGNC
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))