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GENATLAS PHENOTYPE
last update : 13-02-2009
Symbol SSDI
Location Xp22.31
Name X-linked ichthyosis
Other name(s) STS-deficiency, steroid sulfatase deficiency with ichthyosis
Corresponding gene STS
Other symbol(s) XLI
Main clinical features
  • generalized scaling that usually begins soon after birth
  • asymptomatic corneal opacities
  • increased incidence of cryptorchidism
  • may be a risk factor for ADHD ( attention deficit hyperactivity disorder ) with predominantly inattentive symptoms (Kent 2008)
  • maternal failure to progress during labor
  • increased risk of ADHD, autism and social communication deficits
    • Genetic determination sex linked
    genomic disorder
    Prevalence 1/3000-1/1500 males
    Related entries DELXPM
    Function/system disorder dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function ~10 percent of patients have point mutations or other intragenic mutations
      deletion haploinsufficiency typically 1.5 Mb due to NAHR between the CRI-S232 low-copy repeat regions flanking the STS gene in 85-90 percent of cases
      deletion   larger deletions leading to contiguous gene syndrome
    Remark(s) most apparently sporadic affected males are due to maternally inherited deletions
    Genotype/Phenotype correlations
  • larger deletions may be associated with mental retardation as part of a contiguous gene syndrome
  • large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders (Kent 2008)