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ORPHA:247698

Multiple endocrine neoplasia type 2A

low confidenceSubtype of disorder

Also known as: MEN2A · PTC syndrome · Sipple syndrome

Publications

4,606

Trials

3

Interventional, condition-specific

Researchers

1,094

Distinct authors in sample

Gene link

RET

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (15)

MEA type 2a · MEA type II · RET-related multiple endocrine neoplasia type 2A · men 2A · men type 2a · men type II · multiple endocrine adenomatosis type 2A · multiple endocrine adenomatosis type 2a · multiple endocrine adenomatosis type II · multiple endocrine adenomatosis, type II · multiple endocrine neoplasia IIA · multiple endocrine neoplasia type 2A · multiple endocrine neoplasia type II · multiple endocrine neoplasia, type II · ptc syndrome

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

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

  1. Gene identifiedPresent

    Definitive — RET

  2. LiteraturePresent

    4,606 matched papers (1,774 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Thyroid nodule; Aganglionic megacolon; Thyroid C cell hyperplasia) 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 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)

19

Associated phenotypes · MONDO:0008234

  • Thyroid nodule
  • Aganglionic megacolon
  • Thyroid C cell hyperplasia
  • Hypertensive crisis
  • Elevated urinary norepinephrine level

Showing 5 of 19 — 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?

4,606

4,606 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.

4,606 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).

1,774 in the last 10 years · low confidence

Phrase hits: 4,606 · MeSH hits: 18

Open Europe PMC search

Who's working on it?

1,094

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
    Dralle H10 papers · 2026

    Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, Saale, D-06097, Halle, Germany; Department of General, Visceral and Transplantation Surgery, Division of Endocrine Surgery, University of Duisburg-Essen, D-45122, Essen, Germany.

    Papers in Europe PMC
  2. 02
    Machens A10 papers · 2026

    Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, Saale, D-06097, Halle, Germany. Electronic address: AndreasMachens@aol.com.

    Papers in Europe PMC
  3. 03
    Lorenz K9 papers · 2026

    Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, Saale, D-06097, Halle, Germany.

    Papers in Europe PMC
  4. 04
    Weber F7 papers · 2025

    Department of General, Visceral and Transplantation Surgery, Division of Endocrine Surgery, University of Duisburg-Essen, D-45122, Essen, Germany.

    Papers in Europe PMC
  5. 05
    Qi XP5 papers · 2026

    Department of Oncologic and Urologic Surgery, the 903rd Hospital of People's Liberation Army, Hangzhou Medical College, Hangzhou 310004, China.

    Papers in Europe PMC
  6. 06
    Hu MI4 papers · 2025

    The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

    Papers in Europe PMC
  7. 07
    Li F4 papers · 2025

    Department of Anesthesiology, University-Town Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  8. 08
    Prete A4 papers · 2026

    Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, United Kingdom.

    Papers in Europe PMC
  9. 09
    Bottici V3 papers · 2026

    Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa, 56100 Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Camacho CP3 papers · 2025

    Laboratory of Molecular and Translational Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

    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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 2A — 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 2A" OR "MEN2A" OR "PTC syndrome" OR "Sipple syndrome" OR "MEA type 2a" OR "MEA type II" OR "RET-related multiple endocrine neoplasia type 2A" OR "men 2A" OR "men type 2a" OR "men type II" OR "multiple endocrine adenomatosis type 2A" OR "multiple endocrine adenomatosis type II" OR "multiple endocrine adenomatosis, type II" OR "multiple endocrine neoplasia IIA" OR "multiple endocrine neoplasia type II" OR "multiple endocrine neoplasia, type II"

Run this search on Europe PMC

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

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

"Multiple endocrine neoplasia type 2A" OR "MEN2A" OR "PTC syndrome" OR "Sipple syndrome" OR "MEA type 2a" OR "MEA type II" OR "RET-related multiple endocrine neoplasia type 2A" OR "men 2A" OR "men type 2a" OR "men type II" OR "multiple endocrine adenomatosis type 2A" OR "multiple endocrine adenomatosis type II" OR "multiple endocrine adenomatosis, type II" OR "multiple endocrine neoplasia IIA" OR "multiple endocrine neoplasia type II" OR "multiple endocrine neoplasia, type II"

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 · 0 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 (4606) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:35:22.943Z