RARE DISEASERESEARCH ATLAS

ORPHA:54028

Plummer-Vinson syndrome

low confidenceDisorder

Also known as: Kelly-Paterson syndrome · Sideropenic dysphagia

Publications

815

Trials

0

Interventional, condition-specific

Researchers

871

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare hematological disorder characterized by the classic triad of iron-deficiency anemia, dysphagia, and esophageal webs. It predominantly affects Caucasian women aged 40-70 years, although pediatric cases have been reported. Dysphagia is usually painless, intermittent or over several years, and limited to solids; it is sometimes associated with weight loss, while anemia-related symptoms such as fatigue and pallor may predominate. Additional signs include glossitis, angular cheilitis, and koilonychia. and thyroid enlargement may occur. Iron deficiency is considered a major potential etiological factor. The syndrome is associated with an increased risk of developing squamous cell carcinoma of the upper gastrointestinal tract.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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.”

1/6 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

    815 matched papers (226 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

815

815 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=5449) is 41.

815 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

226 in the last 10 years · low confidence

Phrase hits: 815 · MeSH hits: 17

Open Europe PMC search

Who's working on it?

871

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
    Bakshi SS6 papers · 2018

    Department of Otorhinolaryngology and Head and Neck Surgery, Mahatma Gandhi Medical College and Research Institute, Puducherry, India.

    Papers in Europe PMC
  2. 02
    Patel K4 papers · 2026

    Internal Medicine, Henry Ford Health System, Detroit, USA.

    Papers in Europe PMC
  3. 03
    Abnet CC2 papers · 2024

    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

    Papers in Europe PMC
  4. 04
    Ahmed M2 papers · 2026

    Thomas Jefferson University Hospitals, 132 South 10th Street, Philadelphia, PA 19107, USA.

    Papers in Europe PMC
  5. 05
    Candelario N2 papers · 2019

    Department of Internal Medicine, Einstein Medical Center Philadelphia, Pa. Electronic address: candelan@einstein.edu.

    Papers in Europe PMC
  6. 06
    Chen WM2 papers · 2023

    Graduate Institute of Business Administration, College of Management, Fu Jen Catholic University, Taipei 242062, Taiwan.

    Papers in Europe PMC
  7. 07
    Elloumi H2 papers · 2013

    Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia.

    Papers in Europe PMC
  8. 08
    Gargouri D2 papers · 2013

    Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia.

    Papers in Europe PMC
  9. 09
    Ghorbel A2 papers · 2013

    Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia.

    Papers in Europe PMC
  10. 10
    Goel A2 papers · 2017

    Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th 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.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Plummer-Vinson syndrome" OR "Kelly-Paterson syndrome" OR "Sideropenic dysphagia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Plummer-Vinson Syndrome

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

"Plummer-Vinson syndrome" OR "Kelly-Paterson syndrome" OR "Sideropenic dysphagia"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (815) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:54:55.861Z