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ORPHA:100080

Neuroendocrine tumor of the colon

high confidenceDisorder

Also known as: Colonic NET · NET of the colon · Neuroendocrine neoplasm of the colon

Publications

368

72th percentile

Trials

0

Interventional, condition-specific

Researchers

1,431

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

colon NET · colon neuroendocrine neoplasm · colon neuroendocrine tumor · colon neuroendocrine tumor, well differentiated, low or intermediate grade · colon neuroendocrine tumour · colonic neuroendocrine neoplasm · colonic neuroendocrine tumour · neuroendocrine neoplasm of colon · neuroendocrine neoplasm of the colon

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    368 matched papers (253 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Elevated circulating hepatic transaminase concentration; Facial telangiectasia; Abnormal pulmonary valve cusp morphology) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

52

Associated phenotypes · MONDO:0002882

  • Elevated circulating hepatic transaminase concentration
  • Facial telangiectasia
  • Abnormal pulmonary valve cusp morphology
  • Intestinal carcinoid
  • Episodic abdominal pain

Showing 5 of 52 — 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?

368

368 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

368 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).

253 in the last 10 years · high confidence · 72th percentile (publications denominator)

Phrase hits: 368 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,431

Distinct author names in 200 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
    Liu Y7 papers · 2026

    Department of Life and Health, Tsinghua Shenzhen International Graduate School, Shenzhen, China.

    Papers in Europe PMC
  2. 02
    Wang L6 papers · 2025

    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.

    Papers in Europe PMC
  3. 03
    Yang Y6 papers · 2026

    Department of Hepatobiliary Surgery, State Key Laboratory of Molecular Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  4. 04
    Wang X5 papers · 2026

    State Key Laboratory of Molecular Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  5. 05
    Wu J5 papers · 2025

    Hepatobiliary Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China. wujindao@njmu.edu.cn.

    Papers in Europe PMC
  6. 06
    Zhang Y5 papers · 2024

    Hepatobiliary Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China.

    Papers in Europe PMC
  7. 07
    Wang H4 papers · 2026

    The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  8. 08
    Chen J3 papers · 2024

    Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, School of Medicine, Zhejiang University.

    Papers in Europe PMC
  9. 09
    Chen Y3 papers · 2023

    Peng Cheng Laboratory, Shenzhen, China.

    Papers in Europe PMC
  10. 10
    Deng H3 papers · 2025

    Department of Pathology, The Fourth Hospital of Hebei Medical University, No. 12 Jiankang Road, Chang'an District, Shijiazhuang, 050000, Hebei, China.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

high 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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 (12)

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 Neuroendocrine tumor of the colon — 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.

"Neuroendocrine tumor of the colon" OR "Neuroendocrine tumor of colon" OR "Colonic NET" OR "NET of the colon" OR "NET of colon" OR "Neuroendocrine neoplasm of the colon" OR "Neuroendocrine neoplasm of colon" OR "colon NET" OR "colon neuroendocrine neoplasm" OR "colon neuroendocrine tumor" OR "colon neuroendocrine tumor, well differentiated, low or intermediate grade" OR "colon neuroendocrine tumour" OR "colonic neuroendocrine neoplasm" OR "colonic neuroendocrine tumour"

Run this search on Europe PMC

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

"Neuroendocrine tumor of the colon" OR "Neuroendocrine tumor of colon" OR "Colonic NET" OR "NET of the colon" OR "NET of colon" OR "Neuroendocrine neoplasm of the colon" OR "Neuroendocrine neoplasm of colon" OR "colon NET" OR "colon neuroendocrine neoplasm" OR "colon neuroendocrine tumor" OR "colon neuroendocrine tumor, well differentiated, low or intermediate grade" OR "colon neuroendocrine tumour" OR "colonic neuroendocrine neoplasm" OR "colonic neuroendocrine tumour"

Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:02:39.030Z