Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 28-09-2013
Symbol ARCI1
Location 14q11.2
Name ichthyosis, congenital, autosomal recessive 1
Other name(s)
  • ichthyosiform erythroderma, Brocq congenital, nonbullous form
  • ichthyosiform erythroderma, congenital, nonbullous,
    • Corresponding gene TGM1
    Other symbol(s) LIR1, ICR1, ICR2, TGM1, NCIE, CIE, NCIE1
    Main clinical features
  • characterized by prominent erythroderma and fine white, superficial, semiadherent scales
  • large, thick brownish scales and self-healing collodion babies
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name transglutaminase 1 (TGM1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing     often a splice site mutation
    Remark(s) high frequency of mutated arginine codons in TGM1 may be due to the deamination of 5' methylated CpG dinucleotides (Herman 2009)