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GTR Home > Conditions/Phenotypes > Pituitary dependent hypercortisolism

Pituitary dependent hypercortisolism

Synonyms
CUSHING DISEASE, PITUITARY; Cushing disease due to pituitary adenoma; PITUITARY ADENOMA 4, ACTH-SECRETING; Pituitary ACTH Hypersecretion; Pituitary adenoma, acth-secreting, somatic
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARA9, FKBP16, FKBP37, PITA1, SMTPHN, XAP-2, XAP2, AIP
    Summary: aryl hydrocarbon receptor interacting protein

  • Also known as: HumORF8, PITA4, SPG59, UBPY, USP8
    Summary: ubiquitin specific peptidase 8

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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