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ORPHA:189427

Cushing syndrome due to bilateral macronodular adrenocortical disease

medium confidenceDisorder

Also known as: 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

Publications

402

82.8th percentile

Trials

0

Interventional, condition-specific

Researchers

981

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

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.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

ACTH-independent macronodular adrenal hyperplasia · primary bilateral macronodular adrenal hyperplasia

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    402 matched papers (265 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

402

402 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

402 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

265 in the last 10 years · medium confidence · 82.8th percentile (publications denominator)

Phrase hits: 402 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

981

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Bertherat J16 papers · 2025

    Endocrinology Department, INSERM U1016, Institut Cochin, Paris Descartes University, & Center for Rare Adrenal Diseases, Hôpital Cochin, APHP-Paris, France.

    Papers in Europe PMC
  2. 02
    Lacroix A12 papers · 2025

    Aix-Marseille UniversityAssistance Publique Hopitaux de Marseille, Department of Endocrine Surgery, La Conception Hospital, Marseille, FranceAix-Marseille UniversityAssistance Publique Hopitaux de Marseille, Department of Nuclear Medicine, La Timone Hospital, Marseille, FranceDepartment of Nuclear MedicineThyroid and PET/CT Center, Oncology Institute of Southern Switzerland, Bellinzona and Lugano, SwitzerlandAix-Marseille UniversityAssistance Publique Hopitaux de Marseille, Department of Endocrinology, La Conception Hospital, 147 Boulevard Baille, 13005 Marseille, FranceEndocrine DivisionDepartment of Medicine, Centre hospitalier de l'Université de Montréal (CHUM), Montreal, Canada.

    Papers in Europe PMC
  3. 03
    Reincke M12 papers · 2026

    Department of Medicine IV, LMU University Hospital, LMU Munich, Munich, Germany.

    Papers in Europe PMC
  4. 04
    Stratakis CA11 papers · 2026

    Section on Endocrinology and Genetics & Inter-Institute Endocrinology Fellowship Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA. Electronic address: stratakc@mail.nih.gov.

    Papers in Europe PMC
  5. 05
    Espiard S9 papers · 2025

    Endocrinology Department, INSERM U1016, Institut Cochin, Paris Descartes University, & Center for Rare Adrenal Diseases, Hôpital Cochin, APHP-Paris, France.

    Papers in Europe PMC
  6. 06
    Berthon A8 papers · 2025

    NIH, NICHD, Bethesda, MD, USA.

    Papers in Europe PMC
  7. 07
    Bouys L8 papers · 2025

    Institut Cochin, Inserm U1016, CNRS UMR8104, Université de Paris, Paris, France.

    Papers in Europe PMC
  8. 08
    Ragazzon B8 papers · 2025

    Institut Cochin, Inserm U1016, CNRS UMR8104, Université de Paris, Paris, France.

    Papers in Europe PMC
  9. 09
    Bourdeau I7 papers · 2024

    Division of Endocrinology, Department of Medicine, Centre de recherche du Centre hospitalier de l'Université de Montréal (CRCHUM), Université de Montréal, Montréal, Canada.

    Papers in Europe PMC
  10. 10
    Perlemoine K7 papers · 2025

    Endocrinology Department, INSERM U1016, Institut Cochin, Paris Descartes University, & Center for Rare Adrenal Diseases, Hôpital Cochin, APHP-Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Cushing syndrome due to bilateral macronodular adrenocortical disease" OR "CS due to BMACD" OR "CS due to BMAD" OR "Cushing syndrome due to BMACD" OR "Cushing syndrome due to BMAD" OR "Cushing syndrome due to macronodular adrenal hyperplasia" OR "Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia" OR "ACTH-independent macronodular adrenal hyperplasia" OR "primary bilateral macronodular adrenal hyperplasia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Acth-Independent Macronodular Adrenal Hyperplasia

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Cushing syndrome due to bilateral macronodular adrenocortical disease" OR "CS due to BMACD" OR "CS due to BMAD" OR "Cushing syndrome due to BMACD" OR "Cushing syndrome due to BMAD" OR "Cushing syndrome due to macronodular adrenal hyperplasia" OR "Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia" OR "ACTH-independent macronodular adrenal hyperplasia" OR "primary bilateral macronodular adrenal hyperplasia"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (402) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T09:08:12.121Z