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GENATLAS PHENOTYPE
last update : 25-26-2020
Symbol TRHRD
Location 8q23.1
Name thyrotropin-releasing hormone receptor deficiency
Other name(s)
  • Hypothyroidism, congenital, nongoitrous, 7
  • Corresponding gene TRHR
    Other symbol(s) CHNG7
    Main clinical features
  • isolated central hypothyroidism unresponsive to TRH
  • characterized by normal-to-low T4 and normal-to-high thyrotropin (TSH) levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone (TRH); short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue
  • Genetic determination
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name thyrotropin-releasing hormone receptor (TRHR)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function inactivating mutations of TRHR
    Remark(s)