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ORPHA:98813

Hypohidrotic ectodermal dysplasia with immunodeficiency

high confidenceDisorder

Also known as: HED-ID

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

Publications

395

67.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,165

Distinct authors in sample

Gene link

—

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    395 matched papers (194 in last 10 years) Source

  3. Phenotype characterisedPresent

    111 HPO annotations (e.g. Conical tooth; Failure to thrive; Recurrent bacterial infections) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. 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)

111

Associated phenotypes · MONDO:0010293

  • Conical tooth
  • Failure to thrive
  • Recurrent bacterial infections
  • Sparse hair
  • Inflammation of the large intestine

Showing 5 of 111 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

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=3967) is 59.

395 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).

194 in the last 10 years · high confidence · 67.7th percentile (publications denominator)

Phrase hits: 395 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Casanova JL29 papers · 2026

    Howard Hughes Medical Institute, New York, NY, United States.

    Papers in Europe PMC
  2. 02
    Picard C15 papers · 2025

    Imagine Institute, Université de paris, Paris, France.

    Papers in Europe PMC
  3. 03
    Puel A13 papers · 2026

    Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Paris, France.

    Papers in Europe PMC
  4. 04
    Bustamante 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
  5. 05
    Courtois G9 papers · 2018

    INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, Paris, France. gilles.courtois@stlouis.inserm.fr

    Papers in Europe PMC
  6. 06
    Abel 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
  7. 07
    Nishikomori R7 papers · 2022

    Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.

    Papers in Europe PMC
  8. 08
    Smahi 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
  9. 09
    Bodemer C6 papers · 2011
    Papers in Europe PMC
  10. 10
    Boisson 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 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.

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

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 2026-07-30

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).

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 with immunodeficiency — 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 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"

Run this search on Europe PMC

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"

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; 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