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GENATLAS PHENOTYPE
last update : 28-11-2013
Symbol KAL2
Location 8p11.22
Name Kallmann syndrome 2
Other name(s)
  • anosmic isolated hypogonadotrophic hypogonadism
  • hypogonadotropic hypogonadism 2 with or without anosmia
    • Corresponding gene FGFR1
    Other symbol(s) IHH, aIHH, HH2
    Main clinical features
  • isolated hypogonadotrophic hypogonadism in association with olfactory abnormalities
  • complete or partial absence of endogeneous gonadotropin-releasing hormone (GnRH) - induced gonadotropin secretion or action
    • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    multisystem/generalized
    Type disease
    Gene product
    Name fibroblast growth factor-8 receptor 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function multiple mutations
    frameshift   abnormal protein/loss of function  
    insertion   abnormal protein/loss of function  
    Remark(s) loss-of-function mutations in KAL1 and FGFR1 account for approximately 20% of all cases of Kallmann syndrome and mutations in the PROKR2 and PROK2 genes account for an additional 10% (Dode,06)