Disease

Familial Glucocorticoid Deficiency

About the Disease
Familial Glucocorticoid Deficiency, also known as glucocorticoid deficiency, is related to glucocorticoid deficiency 1 and achalasia-addisonianism-alacrima syndrome. An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are GPCR downstream signalling and Diseases of glycosylation. The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, adrenal cortex and cortex, and related phenotypes are decreased circulating cortisol level and failure to thrive

Common Targets
AAAS | TXNRD2 | MC2R | GPX1 | MRAP | MCM4 | PRDX3 | MC1R | NNT | NR3C1

疾病靶点研报
Familial Glucocorticoid Deficiency

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