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ORPHA:100093

Carcinoid syndrome

low confidenceDisorder

Also known as: Malignant carcinoid syndrome

Publications

7,329

Trials

25

Interventional, condition-specific

Researchers

1,151

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

carcinoid syndrome · malignant carcinoid 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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    7,329 matched papers (2,861 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Nausea and vomiting; Elevated circulating hepatic transaminase concentration; Increased serum serotonin) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    2 FDA · 2 EMA designations (none yet with FDA orphan-indication approval) — e.g. (S)-ethyl 2-amino-3-(4-(2-amino-6((R)-1-(4-chloro-2-(3-methyl-1H-pyrazol-1-yl)phenyl)-2,2,2-trifluoroethoxy)pyrimidin-4-yl)phenyl)propanoate Source

  6. Interventional trialPresent

    25 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0100347

  • Nausea and vomiting
  • Elevated circulating hepatic transaminase concentration
  • Increased serum serotonin
  • Tricuspid regurgitation
  • Abnormal circulating B-type natriuretic peptide concentration

Showing 5 of 27 — 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)

4

Designations · no FDA orphan-indication approval yet

  • EMA (S)-ethyl 2-amino-3-(4-(2-amino-6((R)-1-(4-chloro-2-(3-methyl-1H-pyrazol-1-yl)phenyl)-2,2,2-trifluoroethoxy)pyrimidin-4-yl)phenyl)propanoate (Xermelo)Treatment of carcinoid syndrome · 30/05/2016 · PositiveEMA designation
  • FDA telotristat etiprate (Xermelo)Carcinoid syndrome Neuroendocrine Tumors · 2012-03-09
  • FDA lanreotide acetateCarcinoid syndrome · 2011-09-08
  • EMA octreotide acetateTreatment of carcinoid syndrome · 13/01/2023 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

12

Drugs / clinical candidates · MONDO_0100347

CTD chemicals (MyDisease.info)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 90Y-octreotide, DOTA-Tyr(3)- · therapeutic
  • Cetirizine · therapeutic
  • Octreotide · therapeutic

MyDisease.info · MONDO:0100347

Literature

Is anyone studying this?

7,329

7,329 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.

7,329 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).

2,861 in the last 10 years · low confidence

Phrase hits: 7,329 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,151

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
    Halfdanarson TR9 papers · 2026

    Division of Medical Oncology, Department of Oncology, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  2. 02
    Faggiano A6 papers · 2026

    Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy. antongiulio.faggiano@uniroma1.it.

    Papers in Europe PMC
  3. 03
    Hofland J5 papers · 2026

    ENETS Center of Excellence, Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center Cancer Institute, Rotterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Walter T5 papers · 2026

    Service d'Oncologie Médicale et Hépatogastroentérologie, Hospices Civil de Lyon, Lyon, France.

    Papers in Europe PMC
  5. 05
    Ammann M4 papers · 2026

    Department of Surgery, Division of Hepatobiliary and Pancreas Surgery, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  6. 06
    Connolly HM4 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  7. 07
    de Herder WW4 papers · 2026

    ENETS Center of Excellence, Section of Endocrinology, Department of Internal Medicine, Erasmus MC & Erasmus MC Cancer Institute, 3015 GD Rotterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Gudmundsdottir H4 papers · 2026

    Department of Surgery, Division of Hepatobiliary and Pancreas Surgery, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  9. 09
    Kendrick ML4 papers · 2026

    Department of Surgery, Division of Hepatobiliary and Pancreas Surgery, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  10. 10
    Mulders MCF4 papers · 2026

    ENETS Center of Excellence, Section of Endocrinology, Department of Internal Medicine, Erasmus MC & Erasmus MC Cancer Institute, 3015 GD Rotterdam, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

25

interventional trials for this specific condition

25 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

25 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.5th percentile).

low confidence · 95.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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

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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)

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 Carcinoid syndrome — 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.

"Carcinoid syndrome" OR "Malignant carcinoid syndrome"

Run this search on Europe PMC

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

"Carcinoid syndrome" OR "Malignant carcinoid syndrome"

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: 25 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7329) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:06:50.741Z