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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

72.9th percentile

Trials

0

Interventional, condition-specific

Researchers

981

Distinct authors in sample

Gene link

—

Readiness

2/6

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.”

2/6 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 characterisedPresent

    76 HPO annotations (e.g. Emotional lability; Depression; Hirsutism) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

76

Associated phenotypes · MONDO:0009049

  • Emotional lability
  • Depression
  • Hirsutism
  • Proximal amyotrophy
  • Memory impairment

Showing 5 of 76 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical · 68 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Hydrocortisone · marker/mechanism

Pathways: Endocrine resistance; Rap1 signaling pathway; Calcium signaling pathway; cAMP signaling pathway; Phospholipase D signaling pathway; Neuroactive ligand-receptor interaction; Adrenergic signaling in cardiomyocytes; Vascular smooth muscle contraction

MyDisease.info · MONDO:0009049

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=3967) is 59.

402 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

265 in the last 10 years · medium confidence · 72.9th 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Cushing syndrome due to bilateral macronodular adrenocortical disease — check Associations / patient organisations on that page.

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