ORPHA:98813
Hypohidrotic ectodermal dysplasia with immunodeficiency
Also known as: HED-ID
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
395
78.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,165
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare ectodermal syndrome characterized by signs of ectodermal (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010293
- MeSH:C536181
- UMLS:C1846006
- NCIT:C118844
Additional Mondo synonyms (5)
EDA-ID · anhidrotic ectodermal dysplasia with immune deficiency · anhidrotic ectodermal dysplasia with immunodeficiency · hypohidrotic ectodermal dysplasia with immune deficiency · hypohidrotic ectodermal dysplasia with immunodeficiency
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
395 matched papers (194 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 trialPartial
None under the specific name; 4 for broader category hypohidrotic ectodermal dysplasia
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
395
395 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.
395 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).
194 in the last 10 years · high confidence · 78.2th percentile (publications denominator)
Phrase hits: 395 · MeSH hits: 0
Who's working on it?
1,165
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.
- 01Casanova JL29 papers · 2026
Howard Hughes Medical Institute, New York, NY, United States.
Papers in Europe PMC - 02
- 03Puel A13 papers · 2026
Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Paris, France.
Papers in Europe PMC - 04Bustamante J10 papers · 2021
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France. jacinta.bustamante@inserm.fr
Papers in Europe PMC - 05Courtois G9 papers · 2018
INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, Paris, France. gilles.courtois@stlouis.inserm.fr
Papers in Europe PMC - 06Abel L7 papers · 2019
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR1163; Study Center of Immunodeficiencies, APHP; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France Paris Descartes University, Imagine Institute, 75015 Paris, France.
Papers in Europe PMC - 07Nishikomori R7 papers · 2022
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
Papers in Europe PMC - 08Smahi A7 papers · 2006
Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM UR-393, Hôpital Necker, 149 rue de Sèvres, 75743 Paris Cedex 15, France. smahi@necker.fr
Papers in Europe PMC - 09Bodemer C6 papers · 2011Papers in Europe PMC
- 10Boisson B6 papers · 2021
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.
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). 4 trials 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
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.
4 interventional trials matched hypohidrotic ectodermal dysplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypohidrotic ectodermal dysplasia
4
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.
Recruiting under the broader category
- 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
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 with immunodeficiency" OR "HED-ID" OR "EDA-ID" OR "anhidrotic ectodermal dysplasia with immune deficiency" OR "anhidrotic ectodermal dysplasia with immunodeficiency" OR "hypohidrotic ectodermal dysplasia with immune deficiency"
MeSH descriptor terms unioned into the query: Ectodermal dysplasia, hypohidrotic, with immune deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypohidrotic ectodermal dysplasia with immunodeficiency" OR "HED-ID" OR "EDA-ID" OR "anhidrotic ectodermal dysplasia with immune deficiency" OR "anhidrotic ectodermal dysplasia with immunodeficiency" OR "hypohidrotic ectodermal dysplasia with immune deficiency" OR "Ectodermal dysplasia, hypohidrotic, with immune deficiency" OR "ectodermal dysplasia syndrome"
Recall-expansion terms: ectodermal dysplasia syndrome
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypohidrotic ectodermal dysplasia"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T05:25:41.416Z