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ORPHA:276152

Multiple endocrine neoplasia type 4

low confidenceDisorder

Also known as: MEN4

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

18,844

Trials

0

Interventional, condition-specific

Researchers

898

Distinct authors in sample

Gene link

CDKN1B

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

CDKN1B multiple endocrine neoplasia · multiple endocrine neoplasia caused by mutation in CDKN1B · multiple endocrine neoplasia type 4 · multiple endocrine neoplasia, type IV

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — CDKN1B

  2. LiteraturePresent

    18,844 matched papers (10,243 in last 10 years) Source

  3. Phenotype characterisedPresent

    50 HPO annotations (e.g. Carcinoma; Pituitary adenoma; Hypothyroidism) 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 trialPartial

    None under the specific name; 13 for broader category multiple endocrine neoplasia

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 (CDKN1B).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

50

Associated phenotypes · MONDO:0012552

  • Carcinoma
  • Pituitary adenoma
  • Hypothyroidism
  • Primary hyperparathyroidism
  • Hashimoto thyroiditis

Showing 5 of 50 — 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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

18,844

18,844 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.

18,844 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).

10,243 in the last 10 years · low confidence

Phrase hits: 175 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

898

Distinct author names in 175 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
    Stratakis CA10 papers · 2022

    Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  2. 02
    Brandi ML9 papers · 2022

    Unit of Bone and Mineral Metabolic Diseases, Department of Surgery and Translational Medicine, University of FlorenceFlorence, Italy.

    Papers in Europe PMC
  3. 03
    Marini F7 papers · 2021

    Unit of Bone and Mineral Metabolic Diseases, Department of Surgery and Translational Medicine, University of FlorenceFlorence, Italy.

    Papers in Europe PMC
  4. 04
    Thakker RV7 papers · 2024

    Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford OX3 7LJ, UK. Electronic address: rajesh.thakker@ndm.ox.ac.uk.

    Papers in Europe PMC
  5. 05
    Beckers A6 papers · 2022

    University of Liège, Liège, Belgium.

    Papers in Europe PMC
  6. 06
    Giusti F5 papers · 2021

    Department of Experimental and Clinical Biomedical Sciences, University of Florence, Largo Palagi, 1, 50139, Florence, Firenze, Italy.

    Papers in Europe PMC
  7. 07
    Simonds WF5 papers · 2023

    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  8. 08
    Chittiboina P4 papers · 2022

    Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20824.

    Papers in Europe PMC
  9. 09
    Daly AF4 papers · 2020

    Department of Endocrinology, Centre Hospitalaire Universitaire de Liège, Liège Université, Liège, Belgium.

    Papers in Europe PMC
  10. 10
    Faggiano A4 papers · 2024

    Endocrinology Unit, Department of Clinical and Molecular Medicine, Sapienza University of Rome, Sant'Andrea Hospital, ENETS Center of Excellence, Via di Grottarossa 1038, 00189, Rome, Italy. antongiulio.faggiano@uniroma1.it.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 13 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 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.

low 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.

13 interventional trials matched multiple endocrine neoplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: multiple endocrine neoplasia

13

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

1 observational study matches 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 2026-07-30

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).

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 4 — 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 4" OR "CDKN1B multiple endocrine neoplasia" OR "multiple endocrine neoplasia caused by mutation in CDKN1B" OR "multiple endocrine neoplasia, type IV") OR (MESH:"Multiple Endocrine Neoplasia, Type IV") OR ("CDKN1B" OR "CDKN1B syndrome" OR "CDKN1B-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Multiple Endocrine Neoplasia, Type IV

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

"Multiple endocrine neoplasia type 4" OR "CDKN1B multiple endocrine neoplasia" OR "multiple endocrine neoplasia caused by mutation in CDKN1B" OR "multiple endocrine neoplasia, type IV"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"multiple endocrine neoplasia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MEN4

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
  • Publication count (18844) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T11:39:40.839Z