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ORPHA:100081

Neuroendocrine tumor of the rectum

high confidenceDisorder

Also known as: NET of the rectum · Rectal NET · Rectal neuroendocrine tumor

Publications

793

85.3th percentile

Trials

4

Interventional, condition-specific

Researchers

1,253

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

neuroendocrine neoplasm of rectum · neuroendocrine neoplasm of the rectum · rectal neuroendocrine neoplasm · rectum neuroendocrine neoplasm · neuroendocrine tumor of rectum, well differentiated, low or intermediate grade · rectal well differentiated neuroendocrine neoplasm · rectal well-differentiated neuroendocrine neoplasm

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.”

3/6 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

    793 matched papers (637 in last 10 years) Source

  3. Phenotype characterisedPresent

    50 HPO annotations (e.g. Constipation; Bloody diarrhea; Hypotension) 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

    4 matched on ClinicalTrials.gov (3 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)

50

Associated phenotypes · MONDO:0003646

  • Constipation
  • Bloody diarrhea
  • Hypotension
  • Facial telangiectasia
  • Bowel urgency

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?

793

793 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.

793 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).

637 in the last 10 years · high confidence · 85.3th percentile (publications denominator)

Phrase hits: 793 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,253

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
    Liu J7 papers · 2025

    School of Queen Mary, Nanchang University, Nanchang, P. R. China.

    Papers in Europe PMC
  2. 02
    Zhang X7 papers · 2026

    Department of Gastroenterology, the Fifth Medical Center of PLA General Hospital, Beijing, 100071, China.

    Papers in Europe PMC
  3. 03
    Chen Y5 papers · 2026

    Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China.

    Papers in Europe PMC
  4. 04
    Chen Z5 papers · 2026

    Shunde Women and Children's Hospital of Guangdong Medical University, Foshan, Guangdong, China.

    Papers in Europe PMC
  5. 05
    Kim J5 papers · 2024

    Department of Pathology, Gil Medical Center, Gachon University College of Medicine, Inchon, Republic of Korea.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2025

    Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing University of Chinese Medicine, Beijing, China.

    Papers in Europe PMC
  7. 07
    Saito Y5 papers · 2026

    Endoscopy Division, National Cancer Center Hospital, 1-1-5 Tsukiji Chuo-ku, Tokyo 1040045, Japan. Electronic address: ytsaito@ncc.go.jp.

    Papers in Europe PMC
  8. 08
    Chen H4 papers · 2025

    Department of Pathology, National Clinical Research Centre for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Centre for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.

    Papers in Europe PMC
  9. 09
    Huang S4 papers · 2025

    Department of Gastroenterology, South China Hospital, Medical School, Shenzhen University, GuangDong, China.

    Papers in Europe PMC
  10. 10
    Li B4 papers · 2025

    Department of General Surgery (Hepatobiliary Surgery), The Affiliated Hospital of Southwest Medical University, Luzhou 646000, China; Academician (Expert) Workstation of Sichuan Province, Luzhou 646000, China. Electronic address: liboer2002@126.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

high confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

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 18 · after dedupe 18 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 18 · 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 (18)

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 rectum — 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 rectum" OR "Neuroendocrine tumor of rectum" OR "NET of the rectum" OR "NET of rectum" OR "Rectal NET" OR "Rectal neuroendocrine tumor" OR "neuroendocrine neoplasm of rectum" OR "neuroendocrine neoplasm of the rectum" OR "rectal neuroendocrine neoplasm" OR "rectum neuroendocrine neoplasm" OR "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" OR "neuroendocrine tumor of the rectum, well differentiated, low or intermediate grade" OR "rectal well differentiated neuroendocrine neoplasm" OR "rectal well-differentiated neuroendocrine neoplasm"

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 rectum" OR "Neuroendocrine tumor of rectum" OR "NET of the rectum" OR "NET of rectum" OR "Rectal NET" OR "Rectal neuroendocrine tumor" OR "neuroendocrine neoplasm of rectum" OR "neuroendocrine neoplasm of the rectum" OR "rectal neuroendocrine neoplasm" OR "rectum neuroendocrine neoplasm" OR "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" OR "neuroendocrine tumor of the rectum, well differentiated, low or intermediate grade" OR "rectal well differentiated neuroendocrine neoplasm" OR "rectal well-differentiated neuroendocrine neoplasm"

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: 4 interventional · 1 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 2026-07-27T07:03:00.341Z