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ORPHA:238468

Hypohidrotic ectodermal dysplasia

medium confidenceDisorder

Also known as: HED

Publications

16,721

96.6th percentile

Trials

4

Interventional, condition-specific

Researchers

1,000

Distinct authors in sample

Gene link

EDAR, EDARADD

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic ectodermal syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.

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 (5)

anhidrotic ectodermal dysplasia · anhidrotic ectodermal dysplasia 1 · anhidrotic ectodermal dysplasia 3 · ectodermal dysplasia 1, Anhydrotic · hypohidrotic X-linked 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — EDAR, EDARADD

  2. LiteraturePresent

    16,721 matched papers (8,625 in last 10 years) Source

  3. Phenotype characterisedPresent

    290 HPO annotations (e.g. Thin skin; Eczematoid dermatitis; Thick vermilion border) Source

  4. Animal modelPresent

    12 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    4 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 (EDAR, EDARADD).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

290

Associated phenotypes · MONDO:0016535

  • Thin skin
  • Eczematoid dermatitis
  • Thick vermilion border
  • Abnormality of the dentition
  • Hypodontia

Showing 5 of 290 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

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?

16,721

16,721 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

16,721 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).

8,625 in the last 10 years · medium confidence · 96.6th percentile (publications denominator)

Phrase hits: 2,210 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,000

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
    Zhang J7 papers · 2026

    Department of Prosthodontics, Hebei Key Laboratory of Stomatology/ Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, 050017, China.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2026

    Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Central Laboratory, Beijing 100081, China.

    Papers in Europe PMC
  3. 03
    Schneider H6 papers · 2026

    Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.

    Papers in Europe PMC
  4. 04
    Liu H5 papers · 2026

    Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Central Laboratory, Beijing 100081, China.

    Papers in Europe PMC
  5. 05
    Shimomura Y5 papers · 2025

    Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan, Department of Dermatology, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.

    Papers in Europe PMC
  6. 06
    Wu Y5 papers · 2024

    Department of Second Dental Center, Ninth People's Hospital Affiliated with Shanghai Jiao Tong University, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Zhao Y5 papers · 2026

    Department of Prosthodontics, Hebei Key Laboratory of Stomatology/ Hebei Technology Innovation Center of Oral Health, School and Hospital of Stomatology, Hebei Medical University, Shijiazhuang, 050017, China.

    Papers in Europe PMC
  8. 08
    Li Y4 papers · 2026

    National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2025

    Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, Henan 450003, China. henanpifu@sina.com.

    Papers in Europe PMC
  10. 10
    Wang Y4 papers · 2026

    Hospital of Stomatology, Jilin University, Changchun, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

16 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (1)

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 Hypohidrotic 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.

("Hypohidrotic ectodermal dysplasia" OR "anhidrotic ectodermal dysplasia" OR "anhidrotic ectodermal dysplasia 1" OR "anhidrotic ectodermal dysplasia 3" OR "ectodermal dysplasia 1, Anhydrotic" OR "hypohidrotic X-linked ectodermal dysplasia") OR ("EDAR" OR "EDAR syndrome" OR "EDAR-related" OR "EDARADD" OR "EDARADD syndrome" OR "EDARADD-related")

Run this search on Europe PMC

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

"Hypohidrotic ectodermal dysplasia" OR "anhidrotic ectodermal dysplasia" OR "anhidrotic ectodermal dysplasia 1" OR "anhidrotic ectodermal dysplasia 3" OR "ectodermal dysplasia 1, Anhydrotic" OR "hypohidrotic X-linked ectodermal dysplasia"

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: 4 interventional · 16 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: HED

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 2026-07-27T10:22:37.858Z