Glucocorticoid Deficiency 1 (GCCD1)

Alias:

Acth Resistance

Glucocorticoid Deficiency, Due to Acth Unresponsiveness

Familial Glucocorticoid Deficiency 1

Adrenal Unresponsiveness to Acth

Gccd1

Fgd1

Hereditary Unresponsiveness to Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Glucocorticoid Deficiency 1, also known as acth resistance, is related to familial glucocorticoid deficiency and noonan syndrome 1. An important gene associated with Glucocorticoid Deficiency 1 is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include adrenal cortex and adrenal gland, and related phenotypes are generalized hyperpigmentation and recurrent hypoglycemia

Related ID：

MALACARDS：GLC042

OMIM：202200

MESH：D000309