Cushing syndrome

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Cushing syndrome due to bilateral macronodular adrenocortical disease

ORPHA:189427Disease

Also called CS due to BMACD · CS due to BMAD · Cushing syndrome due to BMACD · Cushing syndrome due to BMAD · Cushing syndrome due to macronodular adrenal hyperplasia · Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia

What it is

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.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal dominant, Not applicable
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ARMC5Disease-causing germline mutation(s)
GNASDisease-causing somatic mutation(s)

1 modifying gene — variants that can change how the disease behaves, not cause it

KDM1A

ICD-10 codes

E24.8filed under a broader ICD-10 category — shared with 3 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10824MONDO 0009049MONDO 9049OMIM 219080OMIM 615830OMIM 615954UMLS C2062388

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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