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GTR Home > Conditions/Phenotypes > Pigmented nodular adrenocortical disease, primary, 4

Pigmented nodular adrenocortical disease, primary, 4

Synonyms
CHROMOSOME 19p13 DUPLICATION SYNDROME; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4

Summary

Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAFD1, PKACA, PPNAD4, PRKACA
    Summary: protein kinase cAMP-activated catalytic subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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