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ORPHA:181

X-linked hypohidrotic ectodermal dysplasia

medium confidenceSubtype of disorder

Also known as: Christ-Siemens-Touraine syndrome · XHED

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

596

82.3th percentile

Trials

3

Interventional, condition-specific

Researchers

1,027

Distinct authors in sample

Gene link

EDA

Definitive

Readiness

3/6

Stages with a signal

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive · hypohidrotic ectodermal dysplasia, X-linked

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.

  1. Gene identifiedPresent

    Definitive — EDA

  2. LiteraturePresent

    596 matched papers (257 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 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 (EDA).

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?

596

596 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.

596 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).

257 in the last 10 years · medium confidence · 82.3th percentile (publications denominator)

Phrase hits: 596 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,027

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.

  1. 01
    Schneider H25 papers · 2026

    German Competence Centre for Children with Ectodermal Dysplasias, Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany. Electronic address: holm.schneider@uk-erlangen.de.

    Papers in Europe PMC
  2. 02
    Huttner K8 papers · 2020

    Edimer Pharmaceuticals Inc., Cambridge, Massachusetts, USA.

    Papers in Europe PMC
  3. 03
    Schneider P8 papers · 2023

    Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    Faschingbauer F6 papers · 2025

    From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne, Epalinges, Switzerland (S.S.-M., C.K.-Q., M.V., P.S.); and Edimer Pharmaceuticals, Andover, MA (N.K.).

    Papers in Europe PMC
  5. 05
    Liu H6 papers · 2026

    Department of Dermatology, Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, 400010, China.

    Papers in Europe PMC
  6. 06
    Liu Y6 papers · 2024

    1 McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences , School of Basic Medicine Peking Union Medical College, Beijing, China .

    Papers in Europe PMC
  7. 07
    Maier-Wohlfart S6 papers · 2026

    Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.

    Papers in Europe PMC
  8. 08
    Wu X6 papers · 2025

    Beijing Key Laboratory of Tooth Regeneration and Function Reconstruction, Beijing Laboratory of Oral Health and Beijing Stomatological Hospital, Department of Biochemistry and Molecular Biology, Capital Medical University School of Basic Medical Sciences, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  9. 09
    Zhang Y6 papers · 2025

    Department of Reproductive Regulation, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Callea M5 papers · 2023

    Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial are registered for hypohidrotic ectodermal dysplasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hypohidrotic ectodermal dysplasia

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

11 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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"X-linked hypohidrotic ectodermal dysplasia" OR "Christ-Siemens-Touraine syndrome" OR "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" OR "hypohidrotic ectodermal dysplasia, X-linked"

Run this search on Europe PMC

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

"X-linked hypohidrotic ectodermal dysplasia" OR "Christ-Siemens-Touraine syndrome" OR "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" OR "hypohidrotic ectodermal dysplasia, X-linked" OR "EDA"

Recall-expansion terms: EDA

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: 3 interventional · 11 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hypohidrotic ectodermal dysplasia"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: XHED

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

Ingested 2026-07-26T12:47:19.102Z