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GENATLAS PHENOTYPE
last update : 19-02-2010
Symbol KID
Location 13q12.11
Name keratitis-ichthyosis-deafness syndrome
Other name(s) KID syndrome
Corresponding gene GJB2
Main clinical features
  • erythroderma, hyperkeratotic plaques and deafness
  • in any cases, associated to the follicular occlusion triad (disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne)
  • associated in any cases with Dandy-Walker malformation (DWM), a developmental anomaly of the midline of the cerebellum with complete or partial agenesis of the vermis and cystic dilatation of the fourth ventricle (Todt 2009)
    • Genetic determination autosomal dominant
    Related entries . including keratoderma palmo-plantar with deafness (OMIM 148350) and rare cases with fatal issue
    Function/system disorder ear
    dermatology
    Type disease
    Gene product
    Name gap junction protein beta 2, 26 kD (connexin 26)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)
    Genotype/Phenotype correlations heterozygous point mutation (C119T) substituting a valine for alanine at codon 40 (A40V) associated to the follicular occlusion triad