ORPHA:218
Darier disease
Also known as: Darier-White disease · Keratosis follicularis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,592
93.2th percentile
Trials
2
Interventional, condition-specific
Researchers
995
Distinct authors in sample
Gene link
ATP2A2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007417
- MeSH:D007644
- OMIM:124200
- UMLS:C0022595
- NCIT:C84665
Additional Mondo synonyms (3)
Darier's disease · Keratosis Follicularis · keratosis follicularis
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ATP2A2
- LiteraturePresent
3,592 matched papers (1,046 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
2 matched on ClinicalTrials.gov (1 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?
Yes — we know a specific gene responsible (ATP2A2).
GenCC classification: Definitive.
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?
3,592
3,592 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.
3,592 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).
1,046 in the last 10 years · medium confidence · 93.2th percentile (publications denominator)
Phrase hits: 3,592 · MeSH hits: 0
Who's working on it?
995
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.
- 01Dodiuk-Gad RP5 papers · 2026
Division of Dermatology, Department of Medicine, University of Toronto, Toronto, ON M5S 1A1, Canada.
Papers in Europe PMC - 02Guenova E4 papers · 2026
Department of Immunodermatology, Kepler University Hospital Linz, Linz, Austria.
Papers in Europe PMC - 03Mazereeuw-Hautier J4 papers · 2026
Department of Dermatology and Allergology, Toulouse University Hospital, Toulouse, France; Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Toulouse, Toulouse, France.
Papers in Europe PMC - 04Medvecz M4 papers · 2026
Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária Street, Budapest, 1085, Hungary.
Papers in Europe PMC - 05Simpson CL4 papers · 2026
Department of Dermatology, University of Washington, Seattle, Washington, USA; Institute for Stem Cell & Regenerative Medicine, University of Washington, Seattle, Washington, USA. Electronic address: csimp99@uw.edu.
Papers in Europe PMC - 06Akiyama M3 papers · 2025
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Papers in Europe PMC - 07Hoetzenecker W3 papers · 2026
Department of Dermatology and Venereology, Kepler University Hospital Linz, Linz, Austria.
Papers in Europe PMC - 08Li Z3 papers · 2026
Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230032, China.
Papers in Europe PMC - 09Lipner SR3 papers · 2026
Department of Dermatology, Weill Cornell Medicine, New York, New York. Electronic address: shl9032@med.cornell.edu.
Papers in Europe PMC - 10Paller AS3 papers · 2026
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06614777·RECRUITING·Characterization of the Cytokine Profile and the Microbiome in Darier's Disease
Conditions: Darier Disease·Matched via name phrase
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Darier disease" OR "Darier-White disease" OR "Keratosis follicularis" OR "Darier's disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Darier disease" OR "Darier-White disease" OR "Keratosis follicularis" OR "Darier's disease" OR "ATP2A2"
Recall-expansion terms: ATP2A2
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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:56:11.163Z