ORPHA:54028
Plummer-Vinson syndrome
Also known as: Kelly-Paterson syndrome · Sideropenic dysphagia
Publications
815
Trials
0
Interventional, condition-specific
Researchers
871
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018895
- MeSH:D011004
- UMLS:C0032249
- NCIT:C85016
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
815 matched papers (226 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Glossitis; Geophagia; Iron deficiency anemia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
16
Associated phenotypes · MONDO:0018895
- Glossitis
- Geophagia
- Iron deficiency anemia
- Hypochromic microcytic anemia
- Tongue atrophy
Showing 5 of 16 — 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?
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=3967) is 59.
815 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).
226 in the last 10 years · low confidence
Phrase hits: 815 · MeSH hits: 17
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.
- 01Bakshi SS6 papers · 2018
Department of Otorhinolaryngology and Head and Neck Surgery, Mahatma Gandhi Medical College and Research Institute, Puducherry, India.
Papers in Europe PMC - 02Patel K4 papers · 2026
Internal Medicine, Henry Ford Health System, Detroit, USA.
Papers in Europe PMC - 03Abnet CC2 papers · 2024
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.
Papers in Europe PMC - 04Ahmed M2 papers · 2026
Thomas Jefferson University Hospitals, 132 South 10th Street, Philadelphia, PA 19107, USA.
Papers in Europe PMC - 05Candelario N2 papers · 2019
Department of Internal Medicine, Einstein Medical Center Philadelphia, Pa. Electronic address: candelan@einstein.edu.
Papers in Europe PMC - 06Chen WM2 papers · 2023
Graduate Institute of Business Administration, College of Management, Fu Jen Catholic University, Taipei 242062, Taiwan.
Papers in Europe PMC - 07Elloumi H2 papers · 2013
Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia.
Papers in Europe PMC - 08Gargouri D2 papers · 2013
Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia.
Papers in Europe PMC - 09Ghorbel A2 papers · 2013
Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia.
Papers in Europe PMC - 10Goel 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29
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).
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 Plummer-Vinson syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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"
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