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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol GRL
Location 5q31.3
Name cortisol resistance, primary
Other name(s) pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance
Corresponding gene NR3C1
related resource Glucocorticoid receptor resource database
Other symbol(s) GCCR, GCR
Main clinical features
  • increased glucocorticoid levels, mineralocorticoid excess resulting in hypertension, hypokalemia, and metabolic alkalosis
  • impaired response to stress and reduced anxiety
  • resistance of the hypothalamic-pituitary-adrenal axis to dexamethasone
  • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name glucocorticoid receptor (GRL)
    Remark(s)