Details of Disease

General Information of Disease (ID: DIS0KIH4)

Disease Name ACTH-independent macronodular adrenal hyperplasia 2
Synonyms
primary macronodular adrenal hyperplasia; AIMAH2; ACTH-independent macronodular adrenal hyperplasia type 2; ACTH-independent macronodular adrenal hyperplasia 2; ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia; ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation; Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5
Definition Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.
Disease Hierarchy
DISYKSRF: Genetic disease
DISBVOYU: Cushing syndrome due to macronodular adrenal hyperplasia
DIS0KIH4: ACTH-independent macronodular adrenal hyperplasia 2
Disease Identifiers
MONDO ID
MONDO_0014416
UMLS CUI
C4014803
OMIM ID
615954
MedGen ID
863240

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 Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.