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ORPHA:652

Multiple endocrine neoplasia type 1

medium confidenceDisorder

Also known as: MEN1 · Wermer syndrome

Publications

35,674

98.7th percentile

Trials

7

Interventional, condition-specific

Researchers

1,218

Distinct authors in sample

Gene link

MEN1

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — MEN1

  2. LiteraturePresent

    35,674 matched papers (22,180 in last 10 years) Source

  3. Phenotype characterisedPresent

    96 HPO annotations (e.g. Primary hyperparathyroidism; Parathyroid hyperplasia; Impotence) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    7 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)

96

Associated phenotypes · MONDO:0007540

  • Primary hyperparathyroidism
  • Parathyroid hyperplasia
  • Impotence
  • Reduced bone mineral density
  • Peptic ulcer

Showing 5 of 96 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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

2

Drugs / clinical candidates · MONDO_0007540

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

35,674

35,674 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=3967) is 59.

35,674 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).

22,180 in the last 10 years · medium confidence · 98.7th 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?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 6 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 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: multiple endocrine neoplasia

6

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

8 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.

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 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (19)

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 Multiple endocrine neoplasia type 1 — 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.

("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" OR "MEN1-related")

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"

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

Study-type breakdown: 7 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"multiple endocrine neoplasia"

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

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