ORPHA:238468
Hypohidrotic ectodermal dysplasia
Also known as: HED
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,210
92.7th percentile
Trials
4
Interventional, condition-specific
Researchers
1,000
Distinct authors in sample
Gene link
EDAR, EDARADD
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016535
- UMLS:C5848103
- NCIT:C84562
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — EDAR, EDARADD
- LiteraturePresent
2,210 matched papers (846 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
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)
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?
2,210
2,210 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.
2,210 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).
846 in the last 10 years · medium confidence · 92.7th percentile (publications denominator)
Phrase hits: 2,210 · MeSH hits: 0
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.
- 01Zhang 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 - 02Liu 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 - 03Schneider 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 - 04Liu 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 - 05Shimomura 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 - 06Wu 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 - 07Zhao 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 - 08Li 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 - 09Wang 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 - 10Wang 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 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th 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.
- NCT04980638·RECRUITING·Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)·Matched via name phrase
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.
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.
"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"
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" OR "EDAR" OR "EDARADD"
Recall-expansion terms: EDAR, EDARADD
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: suspect — strategies attempted: phrase, recall-expansion; 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