Details for phenotype: Familial glucocorticoid deficiency type I

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EndoNet ID: ENP00453

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Name

Familial glucocorticoid deficiency type I

General information

This phenotype is pathologic

• Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency. [1]

Links to other resources

GO	regulation of glucocorticoid biosynthetic process
OMIM	202200
Disease database	32669

Phenotype triggers

• no activity (knock out experiment or RNAi) of ACTH receptor ui-button
  in adrenal_cortex ui-button
  • Mutations in the ACTH receptor (melanocortin 2 receptor) cause FGD types 1. [1]

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