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GENATLAS PHENOTYPE
last update : 04-07-2017
Symbol ARIH
Location 11q24.3
Name ichthyosis with hypotrichosis syndrome
Other name(s) congenital ichthyosis, autosomal recessive 11
Corresponding gene ST14
Other symbol(s) ARCI11
Main clinical features
  • congenital ichthyosis associated with abnormal hair, sparse and curly hair
  • diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, marked hypohidrosis, and woolly hair
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     G827R, in the highly conserved peptidase S1-S6 domain
    Remark(s)