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GTR Home > Conditions/Phenotypes > Glucocorticoid deficiency 5

Glucocorticoid deficiency 5

Summary

Familial glucocorticoid deficiency-5 (GCCD5) is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCCD5, SELZ, TR, TR-BETA, TR3, TRXR2, TXNR2, TXNRD2
    Summary: thioredoxin reductase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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