ACTH-independent macronodular adrenal hyperplasia 2
Findings
No curated finding names ACTH-independent macronodular adrenal hyperplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014416), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Decreased circulating ACTH concentrationHPOHP:0002920
- 18 of 18 reported patients
- Increased urinary cortisol levelHPOHP:0012030
- 15 of 15 reported patients
- Increased circulating cortisol levelHPOHP:0003118
- 15 of 18 reported patients
- Macronodular adrenal hyperplasiaHPOHP:0008231
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
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
6 names
Resolves to: ACTH-independent macronodular adrenal hyperplasia 2
- Also called
- ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutationACTH-independent macronodular adrenal hyperplasia type 2AIMAH2ARMC5 Cushing syndrome due to macronodular adrenal hyperplasiaCushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5primary macronodular adrenal hyperplasia