Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
ACTH-independent macronodular adrenal hyperplasia 2 is an autosomal dominant disorder caused by mutations of the ARMC5 gene. It is characterized by adrenal hypertrophy and glucocorticoid overproduction (Cushing syndrome) while ACTH is rather suppressed.
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Assié G et al. (2013) ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. 
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| 2. |
Faucz FR et al. (2014) Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
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| 3. |
Alencar GA et al. (2014) ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.
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| 4. |
Gagliardi L et al. (2014) ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
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| 5. |
Gagliardi L et al. (2009) Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.
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| 6. |
OMIM.ORG article Omim 615954
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