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ORPHA:424002

Squamous cell carcinoma of the rectum

high confidenceDisorder

Also known as: Rectal squamous cell carcinoma

Publications

670

83.2th percentile

Trials

4

Interventional, condition-specific

Researchers

1,100

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

rectal squamous carcinoma · rectal squamous cell cancer · rectal squamous cell carcinoma · rectum squamous cell carcinoma · squamous carcinoma of rectum · squamous carcinoma of the rectum · squamous cell carcinoma of rectum · squamous cell carcinoma of the rectum

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

    670 matched papers (498 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Anal canal squamous cell carcinoma; Neoplasm of the rectum; Neoplasm of the liver) 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 (2 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)

12

Associated phenotypes · MONDO:0018515

  • Anal canal squamous cell carcinoma
  • Neoplasm of the rectum
  • Neoplasm of the liver
  • Neoplasm of the skeletal system
  • Neoplasm of the lung

Showing 5 of 12 — 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

10

Drugs / clinical candidates · MONDO_0018515

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

670

670 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.

670 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).

498 in the last 10 years · high confidence · 83.2th percentile (publications denominator)

Phrase hits: 670 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,100

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
    Zhang Y6 papers · 2025

    Department of Cancer Testing Center, The Fourth Hospital of Hebei Medical University, Shijiazhuang, 050000, Hebei, China.

    Papers in Europe PMC
  2. 02
    Liu J5 papers · 2026

    Department of Oral Surgery, The Second Hospital of Hebei Medical University, Shijiazhuang, China.

    Papers in Europe PMC
  3. 03
    Wang L5 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, Shandong, 266000, China. wl1031@126.com.

    Papers in Europe PMC
  4. 04
    Wang X5 papers · 2025

    School of Clinical Medicine, Shandong Second Medical University, Weifang, 261053, Shandong, China.

    Papers in Europe PMC
  5. 05
    Li X4 papers · 2026

    School of Basic Medical Sciences, State Key Laboratory of Metabolic Dysregulation & the Prevention and Treatment of Esophageal Cancer, Zhengzhou University, Zhengzhou, Henan, 450001, China.

    Papers in Europe PMC
  6. 06
    Liu Z4 papers · 2025

    Department of Breast Surgery, The Third Affiliated Hospital of Kunming Medical University, Yunnan Cancer Hospital, Peking University Cancer Hospital Yunnan Hospital, Kunming, Yunnan, China.

    Papers in Europe PMC
  7. 07
    Wang Q4 papers · 2026

    Department of Radiation Oncology and Medical Oncology, Zhongnan Hospital of Wuhan University, Wuhan, China.

    Papers in Europe PMC
  8. 08
    Wang R4 papers · 2025

    Department of Otolaryngology-Head and Neck Surgery, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao, Shandong, 266000, China.

    Papers in Europe PMC
  9. 09
    Xu X4 papers · 2026

    Department of Gastroenterological Surgery Peking University People's Hospital Beijing China.

    Papers in Europe PMC
  10. 10
    Yang Y4 papers · 2026

    Department of Oral and Maxillofacial Surgery, Hebei Eye Hospital, Xingtai, China.

    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; 2 currently recruiting in our sample. 2,552 trials are registered for squamous cell carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

Broader category: squamous cell carcinoma

2,552

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

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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)

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 Squamous cell carcinoma 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.

"Squamous cell carcinoma of the rectum" OR "Squamous cell carcinoma of rectum" OR "Rectal squamous cell carcinoma" OR "rectal squamous carcinoma" OR "rectal squamous cell cancer" OR "rectum squamous cell carcinoma" OR "squamous carcinoma of rectum" OR "squamous carcinoma of the rectum"

Run this search on Europe PMC

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

"Squamous cell carcinoma of the rectum" OR "Squamous cell carcinoma of rectum" OR "Rectal squamous cell carcinoma" OR "rectal squamous carcinoma" OR "rectal squamous cell cancer" OR "rectum squamous cell carcinoma" OR "squamous carcinoma of rectum" OR "squamous carcinoma of the rectum"

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

Parent-category trials query:

"squamous cell carcinoma"

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 2026-07-27T15:54:48.517Z