You are using an outdated browser. Please upgrade your browser to improve your experience.

ACTH-independent macronodular adrenal hyperplasia 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.
Uniprot Description A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
Mondo Term and Equivalent IDs
MONDO:0014416:  ACTH-independent macronodular adrenal hyperplasia 2
DOID:0111624: 
UMLS:C4014803: