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GENATLAS PHENOTYPE
last update : 28-11-2013
Symbol KAL6
Location 10q24.32
Name Kallmann syndrome
Other name(s)
  • anosmic congenital isolated hypogonadotrophic hypogonadism
  • hypogonadotropic hypogonadism 6 with or without anosmia
  • Corresponding gene FGF8
    Other symbol(s) IHH, aIHH, HH6
    Main clinical features
  • isolated hypogonadotrophic hypogonadism in association with olfactory abnormalities
  • deficiency of gonadotropin-releasing hormone (GnRH)
  • Genetic determination autosomal dominant
    Prevalence the genetic basis for IHH has been established in about 30 percent of cases
    Related entries KAL1-4
    Function/system disorder
    Type disease
    Gene product
    Name anosmin-1
    Remark(s) see also KAL2/FGFR1