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GENATLAS PHENOTYPE
last update : 09-07-2018
Symbol FGS1
Location Xq13.1
HGNC id 3698
Name FG syndrome 1
Other name(s)
  • Opitz-Kaveggia syndrome
  • Keller syndrome
    • Corresponding gene MED12
    Other symbol(s) FGS, OKS
    Main clinical features
  • mental retardation, agenesis of corpus callosum, congenital hypotonia, hypotonic joint contractures, facial dysmorphy characterized by frontal cowlick, wide forehead, macrocephaly, hypertelorism, and long philtrum, and constipation with anal malformation (imperforate anus), cryptorchidism, broad thumbs and great toes
  • behavioral dificulties (higher risk for attentional and anxiety problems), persisting into adulthood (Graham 2008)
    • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R961W
    Remark(s)
  • dysregulated GLI3-dependent SHH signaling due to MED12 mutation contributes to phenotypes of individuals with FGS1 (PMID: 23091001))
  • mutations R961W causing FGS1 disrupt a Mediator-imposed constraint on GLI3-dependent Sonic Hedgehog (SHH) signaling (PMID: 23091001))