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GTR Home > Conditions/Phenotypes > Glucocorticoid deficiency 1

Glucocorticoid deficiency 1

Synonyms
ACTH resistance; Adrenal unresponsiveness to acth; FAMILIAL GLUCOCORTICOID DEFICIENCY 1; Glucocorticoid deficiency, due to ACTH unresponsiveness

Summary

Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by Clark et al., 2009). Genetic Heterogeneity of Familial Glucocorticoid Deficiency Familial glucocorticoid deficiency-2 (GCCD2; 607398) is caused by mutation in the MRAP gene (609196) on chromosome 21q22. GCCD3 (609197) has been mapped to chromosome 8q11.2-q13.2. GCCD4 with or without mineralocorticoid deficiency (614736) is caused by mutation in the NNT gene (607878) on chromosome 5p12. GCCD5 (617825) is caused by mutation in the TXNRD2 gene (606448) on chromosome 22q11. [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTHR, MC2R
    Summary: melanocortin 2 receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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