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GENATLAS PHENOTYPE
last update : 28-09-2013
Symbol HFCI
Location 2q35
Name harlequin fetus type of congenital ichthyosis
Other name(s)
  • harlequin ichthyosis
  • ichthyosis, autosomal recessive 4B (harlequin)
  • Corresponding gene ABCA12
    Other symbol(s) ARCI4B
    Main clinical features
  • horny shell, similar to armor, with deep creases which fragmented the hard surface into large polygonal plates, limbs in rigid semiflexion, severe ectropion and eclabion present, usually lethal skin disorder
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name ATP-binding cassette, sub-family A (ABC1), member 12
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein  
    deletion     disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI
    Remark(s) . mutations cause a disturbance in lamellar granule (LG) lipid transport in the epidermal granular layer keratinocytes, resulting in harlequin ichthyosis (Sakai 2007)