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ORPHA:652

Multiple endocrine neoplasia type 1

medium confidenceDisorder

Also known as: MEN1 · Wermer syndrome

Publications

30,198

99.2th percentile

Trials

10

Interventional, condition-specific

Researchers

1,218

Distinct authors in sample

Gene link

MEN1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (18)

MEA type 1 · MEA type I · MEN1 multiple endocrine neoplasia · MEN1 syndrome · MEN1-related multiple endocrine neoplasia · Wermer's syndrome · men 1 · men type 1 · men type I · multiple endocrine adenomatosis type 1 · multiple endocrine adenomatosis type I · multiple endocrine adenomatosis, type I · multiple endocrine neoplasia 1 · multiple endocrine neoplasia caused by mutation in MEN1 · multiple endocrine neoplasia type 1 · multiple endocrine neoplasia type 1 syndrome · multiple endocrine neoplasia type I · multiple endocrine neoplasia, type I

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MEN1

  2. LiteraturePresent

    30,198 matched papers (18,245 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 trialPresent

    10 matched on ClinicalTrials.gov (1 recruiting in sample)

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?

Yes — we know a specific gene responsible (MEN1).

GenCC classification: Definitive.

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?

30,198

30,198 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

30,198 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).

18,245 in the last 10 years · medium confidence · 99.2th percentile (publications denominator)

Phrase hits: 30,198 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,218

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

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Simonds WF5 papers · 2026

    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    Valk GD5 papers · 2026

    Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

    Papers in Europe PMC
  3. 03
    Jha S4 papers · 2026

    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  4. 04
    van Leeuwaarde RS4 papers · 2026

    Department of Endocrine Oncology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands. r.vanleeuwaarde@umcutrecht.nl.

    Papers in Europe PMC
  5. 05
    Benevento E3 papers · 2026

    Department of Clinical Medicine and Surgery, Endocrinology, Diabetology and Andrology Unit, Federico II University of Naples, Naples, Italy.

    Papers in Europe PMC
  6. 06
    Binquet C3 papers · 2026

    INSERM, U1231, Epidemiology and Clinical Research in Digestive Cancers Team, University of Burgundy-Franche-Comte, Dijon, France.

    Papers in Europe PMC
  7. 07
    Cioppi F3 papers · 2026

    Metabolic Bone Diseases Unit, University Hospital of Florence, AOU Careggi, 50139 Florence, Italy.

    Papers in Europe PMC
  8. 08
    Colao A3 papers · 2026

    Department of Clinical Medicine and Surgery, Endocrinology, Diabetology and Andrology Unit, Federico II University of Naples, Naples, Italy, colao@unina.it.

    Papers in Europe PMC
  9. 09
    Falchetti A3 papers · 2024

    Laboratory of Experimental Clinical Research on Bone Metabolism, Istituto Auxologico Italiano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan 20145, Italy.

    Papers in Europe PMC
  10. 10
    Gangi A3 papers · 2026

    Department of Surgery, Cedars-Sinai Medical Center, Los Angeles, California, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 5 trials are registered for multiple endocrine neoplasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).

medium confidence · 91.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: multiple endocrine neoplasia

5

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

14 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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.

"Multiple endocrine neoplasia type 1" OR "Wermer syndrome" OR "MEA type 1" OR "MEA type I" OR "MEN1 multiple endocrine neoplasia" OR "MEN1 syndrome" OR "MEN1-related multiple endocrine neoplasia" OR "Wermer's syndrome" OR "men 1" OR "men type 1" OR "men type I" OR "multiple endocrine adenomatosis type 1" OR "multiple endocrine adenomatosis type I" OR "multiple endocrine adenomatosis, type I" OR "multiple endocrine neoplasia 1" OR "multiple endocrine neoplasia caused by mutation in MEN1" OR "multiple endocrine neoplasia type 1 syndrome" OR "multiple endocrine neoplasia type I" OR "multiple endocrine neoplasia, type I"

Run this search on Europe PMC

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

"Multiple endocrine neoplasia type 1" OR "Wermer syndrome" OR "MEA type 1" OR "MEA type I" OR "MEN1 multiple endocrine neoplasia" OR "MEN1 syndrome" OR "MEN1-related multiple endocrine neoplasia" OR "Wermer's syndrome" OR "men 1" OR "men type 1" OR "men type I" OR "multiple endocrine adenomatosis type 1" OR "multiple endocrine adenomatosis type I" OR "multiple endocrine adenomatosis, type I" OR "multiple endocrine neoplasia 1" OR "multiple endocrine neoplasia caused by mutation in MEN1" OR "multiple endocrine neoplasia type 1 syndrome" OR "multiple endocrine neoplasia type I" OR "multiple endocrine neoplasia, type I" OR "MEN1"

Recall-expansion terms: MEN1

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 10 interventional · 14 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"multiple endocrine neoplasia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MEN1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:46:40.894Z