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GTR Home > Conditions/Phenotypes > Glucocorticoid deficiency 4

Glucocorticoid deficiency 4

Synonyms
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency

Summary

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCCD4, NNT
    Summary: nicotinamide nucleotide transhydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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