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GENATLAS PHENOTYPE
last update : 27-11-2013
Symbol HHGTR
Location 4q24
Name hypogonadotropic hypogonadism, familial
Other name(s)
  • normosmic hypogonadotropic hypogonadism
  • hypogonadotropic hypogonadism 10 with or without anosmia
    • Corresponding gene TACR3
    Other symbol(s) HH11
    Main clinical features
  • severe congenital gonadotropin deficiency and pubertal failure, with normal olfaction
  • absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis
    • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name NK3R
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)