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ORPHA:230839

Classical-like Ehlers-Danlos syndrome type 1

high confidenceDisorder

Also known as: Classical-like EDS type 1 · Ehlers-Danlos syndrome due to tenascin-X deficiency · clEDS type 1

Publications

20

33.9th percentile

Trials

0

Interventional, condition-specific

Researchers

106

Distinct authors in sample

Gene link

TNXB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

EDS, classic-like type · Ehlers-Danlos syndrome, classic-like type · Ehlers-Danlos syndrome, classic-like, 1

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 identifiedPresent

    Definitive — TNXB

  2. LiteraturePresent

    20 matched papers (16 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 43 for broader category Ehlers-Danlos syndrome

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 (TNXB).

GenCC classification: Definitive.

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?

20

20 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.

20 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).

16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)

Phrase hits: 20 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

106

Distinct author names in 20 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
    van Dijk FS5 papers · 2025

    London North West University Health Care NHS Trust National EDS service, London North West University Health Care, NHS Trust Watford Road HA1 3UJ Harrow United Kingdom.

    Papers in Europe PMC
  2. 02
    Demirdas S4 papers · 2025

    Erasmus Medical Centre Department of Clinical Genetics Dr. Molewaterplein 40 3015 Rotterdam Netherlands.

    Papers in Europe PMC
  3. 03
    Cinquina V3 papers · 2020

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. v.cinquina@studenti.unibs.it.

    Papers in Europe PMC
  4. 04
    Colombi M3 papers · 2020

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marina.colombi@unibs.it.

    Papers in Europe PMC
  5. 05
    Ghali N3 papers · 2024

    Imperial College London Department of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics SW7 2AZ London United Kingdom.

    Papers in Europe PMC
  6. 06
    Ritelli M3 papers · 2020

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marco.ritelli@unibs.it.

    Papers in Europe PMC
  7. 07
    Venturini M3 papers · 2020

    Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, 25123 Brescia, Italy. marina.venturini@unibs.it.

    Papers in Europe PMC
  8. 08
    Angwin C2 papers · 2024

    London North West University Health Care NHS Trust National EDS service Watford Road HA1 3UJ Harrow United Kingdom.

    Papers in Europe PMC
  9. 09
    Chiarelli N2 papers · 2020

    Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. nicola.chiarelli@unibs.it.

    Papers in Europe PMC
  10. 10
    Kaur A2 papers · 2024

    Genetic Metabolic Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education & Research (PGIMER), Chandigarh, 160012, India.

    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). 43 trials are registered for Ehlers-Danlos syndrome, 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.

43 interventional trials matched Ehlers-Danlos syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Ehlers-Danlos syndrome

43

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

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 2026-07-26

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.

"Classical-like Ehlers-Danlos syndrome type 1" OR "Classical-like EDS type 1" OR "Ehlers-Danlos syndrome due to tenascin-X deficiency" OR "clEDS type 1" OR "EDS, classic-like type" OR "Ehlers-Danlos syndrome, classic-like type" OR "Ehlers-Danlos syndrome, classic-like, 1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ehlers-Danlos syndrome caused by tenascin-X deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Classical-like Ehlers-Danlos syndrome type 1" OR "Classical-like EDS type 1" OR "Ehlers-Danlos syndrome due to tenascin-X deficiency" OR "clEDS type 1" OR "EDS, classic-like type" OR "Ehlers-Danlos syndrome, classic-like type" OR "Ehlers-Danlos syndrome, classic-like, 1" OR "Ehlers-Danlos syndrome caused by tenascin-X deficiency" OR "TNXB"

Recall-expansion terms: TNXB

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Ehlers-Danlos syndrome"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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 2026-07-27T10:11:37.842Z