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ORPHA:230839

Classical-like Ehlers-Danlos syndrome type 1

low confidenceDisorder

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

Publications

2,388

Trials

0

Interventional, condition-specific

Researchers

106

Distinct authors in sample

Gene link

TNXB

Definitive

Readiness

4/6

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.”

4/6 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

    2,388 matched papers (1,833 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Sensory neuropathy; Hyperextensible skin; Bruising susceptibility) 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; 44 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)

40

Associated phenotypes · MONDO:0011670

  • Sensory neuropathy
  • Hyperextensible skin
  • Bruising susceptibility
  • Hypotonia
  • Gastrointestinal hemorrhage

Showing 5 of 40 — 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?

2,388

2,388 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.

2,388 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).

1,833 in the last 10 years · low confidence

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). 44 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 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.

low 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.

44 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

44

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 Classical-like Ehlers-Danlos syndrome type 1 — 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.

("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 (MESH:"Ehlers-Danlos syndrome caused by tenascin-X deficiency") OR ("TNXB" OR "TNXB syndrome" OR "TNXB-related")

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"

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; 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
  • Publication count (2388) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:11:37.842Z