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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 mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)