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GENATLAS PHENOTYPE

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

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