Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 25-03-2015
Symbol FGCD4
Location 5p12
Name familial isolated glucocorticoid deficiency 4
Corresponding gene NNT
Main clinical features
  • inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH)
  • affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease