ORPHA:248
Autosomal recessive hypohidrotic ectodermal dysplasia
Also known as: AR-HED
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
51
28.2th percentile
Trials
0
Interventional, condition-specific
Researchers
269
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
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:0016619
- MeSH:D053360
- UMLS:C0406702
- NCIT:C84580
Additional Mondo synonyms (2)
autosomal recessive anhidrotic ectodermal dysplasia · hypohidrotic ectodermal dysplasia, autosomal recessive
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
51 matched papers (10 in last 10 years) Source
- Phenotype characterisedPresent
49 HPO annotations (e.g. Ectodermal dysplasia; Heat intolerance; Hypohidrosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
49
Associated phenotypes · MONDO:0016619
- Ectodermal dysplasia
- Heat intolerance
- Hypohidrosis
- Anodontia
- Conical tooth
Showing 5 of 49 — 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 2026-07-27
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?
51
51 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.
51 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).
10 in the last 10 years · high confidence · 28.2th percentile (publications denominator)
Phrase hits: 51 · MeSH hits: 0
Who's working on it?
269
Distinct author names in 51 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.
- 01Ahmad W6 papers · 2011Papers in Europe PMC
- 02Ali G3 papers · 2019
Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
Papers in Europe PMC - 03Tariq M3 papers · 2010Papers in Europe PMC
- 04Wasif N3 papers · 2011
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 05Ansar M2 papers · 2009Papers in Europe PMC
- 06Baala L2 papers · 1999Papers in Europe PMC
- 07Chhoul H2 papers · 1999Papers in Europe PMC
- 08Freire-Maia N2 papers · 1982Papers in Europe PMC
- 09Goodwin AF2 papers · 2014
Program in Craniofacial and Mesenchymal Biology, University of California San Francisco San Francisco, CA.
Papers in Europe PMC - 10
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 9 September 2026 · last trial check 9 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
- 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
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 2026-07-27
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 Autosomal recessive hypohidrotic ectodermal dysplasia — check Associations / patient organisations on that page.
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.
("Autosomal recessive hypohidrotic ectodermal dysplasia" OR "AR-HED" OR "autosomal recessive anhidrotic ectodermal dysplasia" OR "hypohidrotic ectodermal dysplasia, autosomal recessive") OR (MESH:"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive")MeSH descriptor terms unioned into the query: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive hypohidrotic ectodermal dysplasia" OR "AR-HED" OR "autosomal recessive anhidrotic ectodermal dysplasia" OR "hypohidrotic ectodermal dysplasia, autosomal recessive" OR "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive"
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 2026-07-26T01:52:05.467Z