ORPHA:2309
Pachyonychia congenita
Also known as: PC
Publications
995
Trials
12
Interventional, condition-specific
Researchers
829
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa.
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:0016471
- MeSH:D053549
- UMLS:C0265334
- NCIT:C84986
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
995 matched papers (401 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
12 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)
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?
995
995 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.
995 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).
401 in the last 10 years · low confidence
Phrase hits: 995 · MeSH hits: 0
Who's working on it?
829
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.
- 01O'Toole EA15 papers · 2026
Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
Papers in Europe PMC - 02
- 03Sprecher E15 papers · 2026
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 04Hansen CD12 papers · 2025
Department of Dermatology, University of Utah, Salt Lake City, Utah
Papers in Europe PMC - 05Smith FJD12 papers · 2021
Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.
Papers in Europe PMC - 06Coulombe PA10 papers · 2026
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Biological Chemistry, Johns Hopkins University, Baltimore, Maryland, USA; Department of Dermatology, Johns Hopkins University, Baltimore, Maryland, USA; Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland, USA. Electronic address: coulombe@umich.edu.
Papers in Europe PMC - 07Hovnanian A8 papers · 2026
INSERM Unité Mixte de Recherche 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, University of Paris, Paris, France; Université Paris Cité, Paris F-75015, France.
Papers in Europe PMC - 08
- 09Samuelov L6 papers · 2022
Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
12
interventional trials for this specific condition
12 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).
low confidence · 92.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
12 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06545695·NOT YET RECRUITING·Epidermal Growth Factor Receptor Inhibition for Keratinopathies
Conditions: Epidermolytic Ichthyosis · Palmoplantar Keratoderma · Pachyonychia Congenita·Matched via name phrase
- NCT05643872·RECRUITING·A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita
Conditions: Pachyonychia Congenita·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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
- NCT02321423·RECRUITING·International Pachyonychia Congenita Research Registry
Conditions: Pachyonychia Congenita·Matched via name phrase
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 2026-07-26This 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.
"Pachyonychia congenita"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pachyonychia congenita"
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: 12 interventional · 1 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
Synonyms dropped by stoplist: PC
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
- Publication count (995) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T19:46:59.873Z