ORPHA:181
X-linked hypohidrotic ectodermal dysplasia
Also known as: Christ-Siemens-Touraine syndrome · XHED
Publications
667
76.7th percentile
Trials
3
Interventional, condition-specific
Researchers
1,035
Distinct authors in sample
Gene link
EDA
Definitive
Readiness
5/6
Stages with a signal
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010585
- OMIM:305100
- UMLS:C0162359
Additional Mondo synonyms (2)
ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive · hypohidrotic ectodermal dysplasia, X-linked
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — EDA
- LiteraturePresent
667 matched papers (313 in last 10 years) Source
- Phenotype characterisedPresent
59 HPO annotations (e.g. Delayed eruption of teeth; Microdontia; Everted lower lip vermilion) Source
- Animal modelPresent
4 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
3 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 (EDA).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
59
Associated phenotypes · MONDO:0010585
- Delayed eruption of teeth
- Microdontia
- Everted lower lip vermilion
- Anterior hypopituitarism
- Depressed nasal ridge
Showing 5 of 59 — open Monarch for the full list.
Animal models (Monarch / Alliance)
4
Model associations linked to this Mondo ID
- Edaem2Ywu/Y [background:] C57BL/6J-Edaem2Ywu·MGI:8209645·Mus musculus
- Edaem2Ywu/Edaem2Ywu [background:] C57BL/6J-Edaem2Ywu·MGI:8209647·Mus musculus
- Edaem4Ywu/Y [background:] C57BL/6J-Edaem4Ywu·MGI:8209591·Mus musculus
- Edaem4Ywu/Edaem4Ywu [background:] C57BL/6J-Edaem4Ywu·MGI:8209646·Mus musculus
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
667
667 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=3967) is 59.
667 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).
313 in the last 10 years · medium confidence · 76.7th percentile (publications denominator)
Phrase hits: 596 · MeSH hits: 0
Who's working on it?
1,035
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.
- 01Schneider H24 papers · 2026
German Competence Centre for Children with Ectodermal Dysplasias, Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany. Electronic address: holm.schneider@uk-erlangen.de.
Papers in Europe PMC - 02Schneider P8 papers · 2023
Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 03Huttner K7 papers · 2020
Edimer Pharmaceuticals Inc., Cambridge, Massachusetts, USA.
Papers in Europe PMC - 04Faschingbauer F6 papers · 2025
From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne, Epalinges, Switzerland (S.S.-M., C.K.-Q., M.V., P.S.); and Edimer Pharmaceuticals, Andover, MA (N.K.).
Papers in Europe PMC - 05Liu H6 papers · 2026
Department of Dermatology, Daping Hospital, Army Medical University (Third Military Medical University), Chongqing, 400010, China.
Papers in Europe PMC - 06Liu Y6 papers · 2024
1 McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences , School of Basic Medicine Peking Union Medical College, Beijing, China .
Papers in Europe PMC - 07Maier-Wohlfart S6 papers · 2026
Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
Papers in Europe PMC - 08Wu X6 papers · 2025
Beijing Key Laboratory of Tooth Regeneration and Function Reconstruction, Beijing Laboratory of Oral Health and Beijing Stomatological Hospital, Department of Biochemistry and Molecular Biology, Capital Medical University School of Basic Medical Sciences, Capital Medical University, Beijing, China.
Papers in Europe PMC - 09Zhang Y6 papers · 2025
Department of Reproductive Regulation, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 10Callea M5 papers · 2023
Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial 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 28 July 2026
3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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
Not reviewed·Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)·Matched via name phrase
Broader category: hypohidrotic ectodermal dysplasia
1
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.
Observational and natural-history studies
11 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.
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 22 · after dedupe 22 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 22 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (22)
- ctis·2024-512632-30-00·Authorised, ongoing·A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516347-41-00·Authorised, ongoing·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-512700-18-00·Expired·Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518989-27-01·Cancelled·Treating Leg Symptoms in Women with X-linked Adrenoleukodystrophy: A Key to Improving Sleep and Gait Performance
skipped — LLM skipped (--skip-llm)
- ctis·2023-509390-23-00·Authorised, ongoing·A Multicenter, Open-label, Phase 1/2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients with X-linked Hypophosphatemia
skipped — LLM skipped (--skip-llm)
- ctis·2023-507994-16-00·Cancelled·A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511181-36-00·11·A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa
skipped — LLM skipped (--skip-llm)
- ctis·2024-514466-38-00·Expired·A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512695-34-00·Cancelled·A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513124-41-00·Cancelled·Influencing Progression of Airway Disease in Primary Antibody Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-512790-27-00·Cancelled·A phase I/II, non randomized, monocentric open-label study of autologous CD34+ cells transduced with the G1XCGD lentiviral vector in patients with X-linked chronic granulomatous disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-511411-25-00·Expired·Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated with Variants in the RPGR gene
skipped — LLM skipped (--skip-llm)
- ctis·2024-513774-21-00·Expired·AN OPEN-LABEL, MULTICENTER STUDY IN MALE PEDIATRIC PATIENTS WITH CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) TO ASSESS THE EFFECTS OF MIN-102 TREATMENT ON DISEASE PROGRESSION PRIOR TO HUMAN STEM CELL TRANSPLANT (HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504419-34-00·Expired·A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512637-32-00·Expired·ASPIRO: A Phase 1/2/3, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients
skipped — LLM skipped (--skip-llm)
- ctis·2023-506735-15-00·Cancelled·MT-7117-A-302 Study: A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents with Erythropoietic Protoporphyria or X-Linked Protoporphyria
skipped — LLM skipped (--skip-llm)
- ctis·2023-504534-21-00·Cancelled·Open-label extension study with Tadekinig alfa (r-hIL-18BP) to monitor safety and tolerability in patients with IL-18 driven monogenic autoinflammatory conditions: NLRC4 mutation and XIAP deficiency
skipped — LLM skipped (--skip-llm)
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 X-linked 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.
("X-linked hypohidrotic ectodermal dysplasia" OR "Christ-Siemens-Touraine syndrome" OR "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" OR "hypohidrotic ectodermal dysplasia, X-linked") OR ("EDA syndrome" OR "EDA-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked hypohidrotic ectodermal dysplasia" OR "Christ-Siemens-Touraine syndrome" OR "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" OR "hypohidrotic ectodermal dysplasia, X-linked"
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: 3 interventional · 11 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypohidrotic ectodermal dysplasia"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XHED
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 2026-07-26T12:47:19.102Z