ORPHA:189
Hidrotic ectodermal dysplasia
Also known as: Clouston syndrome
Publications
445
76.2th percentile
Trials
0
Interventional, condition-specific
Researchers
928
Distinct authors in sample
Gene link
GJB6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Clouston syndrome (or hidrotic ectodermal ) is characterised by the clinical triad of nail , alopecia, and palmoplantar hyperkeratosis.
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:0007510
- OMIM:129500
- UMLS:C0162361
Additional Mondo synonyms (1)
hidrotic ectodermal dysplasia
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — GJB6
- LiteraturePresent
445 matched papers (172 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 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?
Yes — we know a specific gene responsible (GJB6).
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?
445
445 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
445 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).
172 in the last 10 years · high confidence · 76.2th percentile (publications denominator)
Phrase hits: 445 · MeSH hits: 0
Who's working on it?
928
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.
- 01Laird DW6 papers · 2024
Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario N6A5C1, Canada.
Papers in Europe PMC - 02White TW6 papers · 2025
Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY 11794, United States. Electronic address: thomas.white@stonybrook.edu.
Papers in Europe PMC - 03Lamartine J5 papers · 2024
Laboratoire de Génomique et Radiobiologie du Kératinocyte (EA 2541: Université d'Evry/CEA), Service de Génomique Fonctionnelle, Département de Radiobiologie et Radiopathologie, Evry, France.
Papers in Europe PMC - 04Mammano F4 papers · 2025
CNR Institute of Biochemistry and Cell Biology, Monterotondo, 00015 Rome, Italy.
Papers in Europe PMC - 05Waksman G4 papers · 2004Papers in Europe PMC
- 06Blanchet-Bardon C3 papers · 2004Papers in Europe PMC
- 07Kibar Z3 papers · 2000Papers in Europe PMC
- 08Rouleau GA3 papers · 2000Papers in Europe PMC
- 09Yang G3 papers · 2024
Shanghai Institute for Advanced Immunochemical Studies, ShanghaiTech University, Shanghai 201210, China.
Papers in Europe PMC - 10Zhang L3 papers · 2018
Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
high 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.
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.
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.
"Hidrotic ectodermal dysplasia" OR "Clouston syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hidrotic ectodermal dysplasia" OR "Clouston syndrome" OR "GJB6" OR "ectodermal dysplasia syndrome"
Recall-expansion terms: GJB6, ectodermal dysplasia syndrome
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T12:50:05.812Z