Details of Disease

General Information of Disease (ID: DISBVOYU)

Disease Name Cushing syndrome due to macronodular adrenal hyperplasia
Synonyms
MMAD; primary macronodular adrenal hyperplasia; massive macronodular adrenocortical disease; ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; AIMAH; ACTH-independent Cushing syndrome; primary bilateral macronodular adrenal hyperplasia
Definition
A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.
Disease Hierarchy
DISDDZ65: ACTH-independent Cushing syndrome
DISBVOYU: Cushing syndrome due to macronodular adrenal hyperplasia
Disease Identifiers
MONDO ID
MONDO_0009049
UMLS CUI
C2062388
MedGen ID
923388
Orphanet ID
189427
SNOMED CT ID
720459002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARMC5 OTO7IV74 Supportive Autosomal dominant [1]
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References

1 ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603.