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ORPHA:247709

Multiple endocrine neoplasia type 2B

low confidenceSubtype of disorder

Also known as: MEN2B · Multiple endocrine neoplasia type 3 · Wagenmann-Froboese syndrome

Publications

2,934

Trials

3

Interventional, condition-specific

Researchers

1,097

Distinct authors in sample

Gene link

RET

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by aggressive medullary thyroid carcinoma in association with other endocrine tumors, notably pheochromocytoma (one or both adrenal glands can be affected). Onset is typically in infancy or childhood and patients often have a typical facies (mucosal neuromas of the lips and tongue, and bumpy lips), ophthalmologic abnormalities (alacrima in infancy, thickened and everted eyelids, mild ptosis, and prominent corneal nerves), skeletal anomalies (marfanoid body habitus, narrow long facies, pes cavus, pectus excavatum, high-arched palate, scoliosis, hyperextensible joints and slipped capital femoral epiphyses), and a generalized ganglioneuromatosis throughout the aerodigestive tract. Chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations.

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 (12)

RET-related multiple endocrine neoplasia type 2B · men 2B · men IIB · men type 2B · men type IIB · multiple endocrine adenomatosis type IIB · multiple endocrine neoplasia IIB · multiple endocrine neoplasia type 2B · multiple endocrine neoplasia type 3 · multiple endocrine neoplasia type IIB · multiple endocrine neoplasia type III · multiple endocrine neoplasia, type III

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 — RET

  2. LiteraturePresent

    2,934 matched papers (1,192 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Hyperlordosis; High palate; Elevated circulating calcitonin concentration) Source

  4. Animal modelPresent

    2 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

    3 matched on ClinicalTrials.gov

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 (RET).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0008082

  • Hyperlordosis
  • High palate
  • Elevated circulating calcitonin concentration
  • Disproportionate tall stature
  • Kyphosis

Showing 5 of 29 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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

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?

2,934

2,934 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,934 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).

1,192 in the last 10 years · low confidence

Phrase hits: 2,934 · MeSH hits: 8

Open Europe PMC search

Who's working on it?

1,097

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
    Glod J6 papers · 2026

    National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Akshintala S5 papers · 2026

    National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  3. 03
    van Santen HM5 papers · 2026

    Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.

    Papers in Europe PMC
  4. 04
    Verrijn Stuart AA5 papers · 2026

    Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.

    Papers in Europe PMC
  5. 05
    Dralle H4 papers · 2025

    Section of Endocrine Surgery, Department of General, Visceral and Transplantation Surgery, Medical Center, University Essen-Duisburg, Duisburg, Germany.

    Papers in Europe PMC
  6. 06
    Machens A4 papers · 2025

    Department of General and Vascular Surgery, Martin Luther University Halle-Wittenberg, Halle, Germany.

    Papers in Europe PMC
  7. 07
    Qi XP4 papers · 2026

    Department of Urology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Enze Hospital of Hangzhou Medical College, Taizhou Enze Medical Center (Group), Taizhou, China.

    Papers in Europe PMC
  8. 08
    Valk GD4 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Widemann B4 papers · 2020

    National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  10. 10
    Bottici V3 papers · 2026

    Unit of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 10 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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: multiple endocrine neoplasia

10

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.

Recruiting under the broader category

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.

None of the matched observational studies is currently listed as 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 2B — 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 2B" OR "MEN2B" OR "Multiple endocrine neoplasia type 3" OR "Wagenmann-Froboese syndrome" OR "RET-related multiple endocrine neoplasia type 2B" OR "men 2B" OR "men IIB" OR "men type 2B" OR "men type IIB" OR "multiple endocrine adenomatosis type IIB" OR "multiple endocrine neoplasia IIB" OR "multiple endocrine neoplasia type IIB" OR "multiple endocrine neoplasia type III" OR "multiple endocrine neoplasia, type III"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Multiple Endocrine Neoplasia Type 2b

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

"Multiple endocrine neoplasia type 2B" OR "MEN2B" OR "Multiple endocrine neoplasia type 3" OR "Wagenmann-Froboese syndrome" OR "RET-related multiple endocrine neoplasia type 2B" OR "men 2B" OR "men IIB" OR "men type 2B" OR "men type IIB" OR "multiple endocrine adenomatosis type IIB" OR "multiple endocrine neoplasia IIB" OR "multiple endocrine neoplasia type IIB" OR "multiple endocrine neoplasia type III" OR "multiple endocrine neoplasia, type III"

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

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"multiple endocrine neoplasia"

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 (2934) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:35:47.515Z