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ORPHA:494547

Squamous cell carcinoma of the hypopharynx

high confidenceDisorder

Publications

3,721

91.1th percentile

Trials

120

Interventional, condition-specific

Researchers

977

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.

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 (6)

epidermoid carcinoma of hypopharynx · epidermoid carcinoma of the hypopharynx · hypopharyngeal epidermoid carcinoma · hypopharyngeal squamous cell carcinoma · hypopharyngeal throat squamous cell cancer · squamous cell carcinoma of hypopharynx

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

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

    3,721 matched papers (2,387 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    120 matched on ClinicalTrials.gov (22 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

24

Drugs / clinical candidates · MONDO_0044638

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,721

3,721 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.

3,721 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).

2,387 in the last 10 years · high confidence · 91.1th percentile (publications denominator)

Phrase hits: 3,721 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

977

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 Y12 papers · 2026

    Department of Otolaryngology, Head and Neck Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.

    Papers in Europe PMC
  2. 02
    Wang J11 papers · 2026

    Division of Applied Oral Sciences & Community Dental Care, Faculty of Dentistry, the University of Hong Kong, Hong Kong SAR, China. Junwen@hku.hk.

    Papers in Europe PMC
  3. 03
    Tao L10 papers · 2026

    ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Wang X9 papers · 2026

    Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Chen Y8 papers · 2026

    Country Department of Radiation Oncology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Li Z8 papers · 2026

    Institute for Viral Hepatitis & Department of Infectious Diseases, Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  7. 07
    Liu Z8 papers · 2026

    Department of Head and Neck Radiotherapy, Shandong Provincial ENT Hospital, Shandong University, Jinan, China.

    Papers in Europe PMC
  8. 08
    Zhang X8 papers · 2026

    Department of Otolaryngology, the Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  9. 09
    Chen X7 papers · 2026

    Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Liu S7 papers · 2026

    Department of Head Neck and Thyroid Surgery, the Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, Zhengzhou, Henan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

120

interventional trials for this specific condition

120 interventional trials matched this specific condition name; 22 currently recruiting in our sample.

Data as of 11 September 2026

120 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.7th percentile).

high confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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 28 · after dedupe 28 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 28 · 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 (28)

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 hypopharynx — 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 hypopharynx" OR "Squamous cell carcinoma of hypopharynx" OR "epidermoid carcinoma of hypopharynx" OR "epidermoid carcinoma of the hypopharynx" OR "hypopharyngeal epidermoid carcinoma" OR "hypopharyngeal squamous cell carcinoma" OR "hypopharyngeal throat squamous cell cancer"

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 hypopharynx" OR "Squamous cell carcinoma of hypopharynx" OR "epidermoid carcinoma of hypopharynx" OR "epidermoid carcinoma of the hypopharynx" OR "hypopharyngeal epidermoid carcinoma" OR "hypopharyngeal squamous cell carcinoma" OR "hypopharyngeal throat squamous cell cancer"

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: 120 interventional · 5 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 2026-07-27T17:33:13.948Z