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ORPHA:99977

Squamous cell carcinoma of the esophagus

medium confidenceDisorder

Also known as: ESCC · Esophageal epidermoid carcinoma · Esophageal squamous cell carcinoma

Publications

54,733

99.3th percentile

Trials

569

Interventional, condition-specific

Researchers

1,131

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (16)

esophageal epidermoid carcinoma · esophageal scc · esophageal squamous cell cancer · esophageal squamous cell carcinoma · esophagus scc · esophagus squamous cell carcinoma · oesophagus scc · scc of esophagus · scc of the esophagus · scc of the oesophagus · squamous cell car. - esophagus · squamous cell car. - oesophagus · squamous cell carcinoma of esophagus · squamous cell carcinoma of oesophagus · squamous cell carcinoma of the esophagus · squamous cell carcinoma of the oesophagus

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

    54,733 matched papers (40,244 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Clinodactyly of the 5th toe; Nausea and vomiting; Lymphadenopathy) Source

  4. Animal modelPresent

    1 genotype model (Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    569 matched on ClinicalTrials.gov (211 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)

8

Associated phenotypes · MONDO:0005580

  • Clinodactyly of the 5th toe
  • Nausea and vomiting
  • Lymphadenopathy
  • Feeding difficulties in infancy
  • Esophageal carcinoma

Showing 5 of 8 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

144

Drugs / clinical candidates · MONDO_0005580

CTD chemicals (MyDisease.info)

17 associated chemicals · 764 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • CF regimen · therapeutic
  • Cisplatin · therapeutic
  • Cysteine Proteinase Inhibitors · therapeutic
  • diallyl trisulfide · therapeutic
  • Docetaxel · therapeutic
  • Fluorouracil · therapeutic
  • isoalantolactone · therapeutic
  • longikaurin A · therapeutic
  • Mitomycin · therapeutic
  • Vindesine · therapeutic
  • Vinorelbine · therapeutic
  • Zinc · therapeutic

Pathways: Glycolysis / Gluconeogenesis; Fructose and mannose metabolism; Ascorbate and aldarate metabolism; Fatty acid biosynthesis; Fatty acid degradation; Caffeine metabolism; Pyrimidine metabolism; Valine, leucine and isoleucine degradation

MyDisease.info · MONDO:0005580

Literature

Is anyone studying this?

54,733

54,733 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.

54,733 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).

40,244 in the last 10 years · medium confidence · 99.3th percentile (publications denominator)

Phrase hits: 54,733 · MeSH hits: 889

Open Europe PMC search

Who's working on it?

1,131

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
    Wang Y17 papers · 2026

    Department of Oncology & Cancer Institute, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, China.

    Papers in Europe PMC
  2. 02
    Li Y14 papers · 2026

    Department of Radiation Oncology, Weifang People's Hospital, Shandong Second Medical University, Weifang, Guangwen Street, NO.151, Weifang City, Shandong Province, China.

    Papers in Europe PMC
  3. 03
    Li J13 papers · 2026

    Department of Radiation Oncology, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, Fujian, China.

    Papers in Europe PMC
  4. 04
    Zhang Y10 papers · 2026

    Department of Thoracic Surgery, Quanzhou First Hospital, Fujian, 362000, China.

    Papers in Europe PMC
  5. 05
    Li Z9 papers · 2026

    Department of Thoracic Surgery, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Zhang H9 papers · 2026

    Department of Thoracic Surgery, Shandong Public Health Clinical Center, Shandong University, Public Health Clinical Center Affiliated to Shandong University, Jinan, PR China.

    Papers in Europe PMC
  7. 07
    Zhang J9 papers · 2026

    Department of Cardiothoracic Surgery, The Second Affiliated Hospital, Jiaxing University, Jiaxing, Zhejiang Province.

    Papers in Europe PMC
  8. 08
    Zhang X9 papers · 2026

    Engineering Research Center of Immunocellular Therapy, Beijing, China.

    Papers in Europe PMC
  9. 09
    Li S8 papers · 2026

    Department of Radiation Oncology, Weifang People's Hospital, Shandong Second Medical University, Weifang, Guangwen Street, NO.151, Weifang City, Shandong Province, China.

    Papers in Europe PMC
  10. 10
    Liu Z8 papers · 2026

    Department of Radiation Oncology, The Tenth Affiliated Hospital, Southern Medical University (Dongguan People's Hospital), Dongguan, Guangdong, China; Department of Radiation Oncology, Hunan Cancer Hospital, Changsha, Hunan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

569

interventional trials for this specific condition

569 interventional trials matched this specific condition name; 211 currently recruiting in our sample. 2,012 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

569 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.7th percentile).

medium confidence · 99.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: squamous cell carcinoma

2,012

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

Observational and natural-history studies

88 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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 esophagus — 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 esophagus" OR "Squamous cell carcinoma of esophagus" OR "Esophageal epidermoid carcinoma" OR "Esophageal squamous cell carcinoma" OR "esophageal scc" OR "esophageal squamous cell cancer" OR "esophagus scc" OR "esophagus squamous cell carcinoma" OR "oesophagus scc" OR "scc of esophagus" OR "scc of the esophagus" OR "scc of the oesophagus" OR "scc of oesophagus" OR "squamous cell car. - esophagus" OR "squamous cell car. - oesophagus" OR "squamous cell carcinoma of oesophagus" OR "squamous cell carcinoma of the oesophagus"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Esophageal Squamous Cell Carcinoma; Esophageal Squamous Cell Carcinoma

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

"Squamous cell carcinoma of the esophagus" OR "Squamous cell carcinoma of esophagus" OR "Esophageal epidermoid carcinoma" OR "Esophageal squamous cell carcinoma" OR "esophageal scc" OR "esophageal squamous cell cancer" OR "esophagus scc" OR "esophagus squamous cell carcinoma" OR "oesophagus scc" OR "scc of esophagus" OR "scc of the esophagus" OR "scc of the oesophagus" OR "scc of oesophagus" OR "squamous cell car. - esophagus" OR "squamous cell car. - oesophagus" OR "squamous cell carcinoma of oesophagus" OR "squamous cell carcinoma of the oesophagus" OR "[OBSOLETE] Esophageal Squamous Cell Carcinoma"

Interventional trials matched via: both, 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: 569 interventional · 88 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"squamous cell carcinoma"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ESCC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T06:50:14.572Z