ORPHA:248
Autosomal recessive hypohidrotic ectodermal dysplasia
Also known as: AR-HED
Query health: suspect — Only one of 3 strategies returned hits (phrase).
How rare: How common this is has not been clearly measured.
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=183) is 38.
51 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
10 in the last 10 years · high confidence · 30.3th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
4
trials for hypohidrotic ectodermal dysplasia, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
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
Recruiting interventional trials
Trials testing a treatment 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 — see the summary above. Those studies are not counted in the condition-specific total.
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 below 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"
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" OR "autosomal genetic disease" OR "ectodermal dysplasia syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D053360 UMLS:C0406702 NCIT:C84580
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