Cushing syndrome due to macronodular adrenal hyperplasia
Findings
No curated finding names Cushing syndrome due to macronodular adrenal hyperplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.
Definition from the Mondo Disease Ontology (MONDO:0009049), read 2026-09-29. CC BY 4.0.
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Macronodular adrenal hyperplasiaHPOHP:0008231
- Obligate (100% of cases)
- Decreased circulating ACTH concentrationHPOHP:0002920
- Very frequent (80% to 99% of cases)
- Moon faciesHPOHP:0500011
- Very frequent (80% to 99% of cases)
- Abdominal obesityHPOHP:0012743
- Frequent (30% to 79% of cases)
- Abnormal libidoHPOHP:0031845
- Frequent (30% to 79% of cases)
- Abnormal response to corticotropin releasing hormone stimulation testHPOHP:0031077
- Frequent (30% to 79% of cases)
- Bruising susceptibility
Show the remaining 27
- HyperlipidemiaHPOHP:0003077
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Increased circulating cortisol levelHPOHP:0003118
- Frequent (30% to 79% of cases)
- Increased urinary cortisol levelHPOHP:0012030
- Frequent (30% to 79% of cases)
- Irregular menstruationHPOHP:0000858
- Frequent (30% to 79% of cases)
- Kidney stoneHPOHP:0000787
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARMC5HGNC:25781
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Cushing syndrome due to macronodular adrenal hyperplasia
- Also called
- ACTH-independent macronodular adrenal hyperplasiaprimary bilateral macronodular adrenal hyperplasia