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ORPHA:189

Hidrotic ectodermal dysplasia

high confidenceDisorder

Also known as: Clouston syndrome

Publications

2,391

88.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,128

Distinct authors in sample

Gene link

GJB6

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — GJB6

  2. LiteraturePresent

    2,391 matched papers (1,276 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Palmoplantar keratoderma; Sparse hair; Absent axillary hair) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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?

Yes — we know a specific gene responsible (GJB6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0007510

  • Palmoplantar keratoderma
  • Sparse hair
  • Absent axillary hair
  • Hearing impairment
  • Hyperpigmentation of the skin

Showing 5 of 53 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

2,391

2,391 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.

2,391 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).

1,276 in the last 10 years · high confidence · 88.7th percentile (publications denominator)

Phrase hits: 445 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,128

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
    Li Y5 papers · 2026

    Department of Otorhinolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, China; Shanghai Jiaotong University School of Medicine Ear Institute, Shanghai, China.

    Papers in Europe PMC
  2. 02
    Huang S4 papers · 2025

    Department of Otorhinolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, China; Shanghai Jiaotong University School of Medicine Ear Institute, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Laird DW4 papers · 2023

    Department of Anatomy and Cell Biology, University of Western Ontario, London, ON, Canada.

    Papers in Europe PMC
  4. 04
    White TW4 papers · 2025

    Department of Physiology and Biophysics, Stony Brook University, T5-147, Basic Science Tower, Stony Brook, NY, 11794-8661, USA. thomas.white@stonybrook.edu.

    Papers in Europe PMC
  5. 05
    Zhang H4 papers · 2025

    College of Life Sciences, Qufu Normal University, Qufu, 273165, China. zhanghonghai67@126.com.

    Papers in Europe PMC
  6. 06
    Batissoco AC3 papers · 2026

    Laboratory of Molecular, Cellular, and Translational Genetic Otolaryngology (LIM32), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  7. 07
    Lezirovitz K3 papers · 2026

    Laboratory of Molecular, Cellular, and Translational Genetic Otolaryngology (LIM32), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  8. 08
    Li L3 papers · 2025

    Department of Physiology and Biophysics, Stony Brook University, T5-147, Basic Science Tower, Stony Brook, NY, 11794-8661, USA.

    Papers in Europe PMC
  9. 09
    Liu X3 papers · 2024

    Department of Otorhinolaryngology, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, China.

    Papers in Europe PMC
  10. 10
    Liu Y3 papers · 2025

    Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 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 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.

high 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 Hidrotic ectodermal dysplasia — check Associations / patient organisations on that page.

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.

("Hidrotic ectodermal dysplasia" OR "Clouston syndrome") OR ("GJB6" OR "GJB6 syndrome" OR "GJB6-related")

Run this search on Europe PMC

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

"Hidrotic ectodermal dysplasia" OR "Clouston syndrome"

Study-type breakdown: 0 interventional · 0 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

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