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ORPHA:230851

Cardiac-valvular Ehlers-Danlos syndrome

high confidenceDisorder

Also known as: Cardiac-valvular EDS · cvEDS

Publications

97

65.1th percentile

Trials

1

Interventional, condition-specific

Researchers

642

Distinct authors in sample

Gene link

COL1A2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, cardiac valvular defects comprising mitral and/or aortic valve insufficiency.

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 (8)

COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type · EDS, cardiac valvular type · EDSCV · Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form · cardiac valvular form of Ehlers-Danlos syndrome · cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome · cardiac-valvular EDS · cardiac-valvular Ehlers-Danlos syndrome

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — COL1A2

  2. LiteraturePresent

    97 matched papers (92 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 trialPresent

    1 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 (COL1A2).

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?

97

97 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.

97 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).

92 in the last 10 years · high confidence · 65.1th percentile (publications denominator)

Phrase hits: 97 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

642

Distinct author names in 97 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.

  1. 01
    Malfait F5 papers · 2022

    Center for Medical Genetics Ghent, Ghent University, 9000 Ghent, Belgium.

    Papers in Europe PMC
  2. 02
    Zschocke J5 papers · 2024

    Institute of Human Genetics, Med. Univ. Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC
  3. 03
    Colombi M4 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
  4. 04
    Ritelli M4 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
  5. 05
    Chiarelli N3 papers · 2019

    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
  6. 06
    Syx D3 papers · 2025

    Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

    Papers in Europe PMC
  7. 07
    van Dijk FS3 papers · 2024

    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
  8. 08
    Zhang S3 papers · 2019

    School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Ji'nan, China.

    Papers in Europe PMC
  9. 09
    Akhtar R2 papers · 2022

    Department of Mechanical, Materials and Aerospace Engineering, School of Engineering, University of Liverpool, Liverpool L69 3GH, UK.

    Papers in Europe PMC
  10. 10
    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

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 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

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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.

"Cardiac-valvular Ehlers-Danlos syndrome" OR "Cardiac-valvular EDS" OR "cvEDS" OR "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type" OR "EDS, cardiac valvular type" OR "EDSCV" OR "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form" OR "cardiac valvular form of Ehlers-Danlos syndrome" OR "cardiac valvular form of the Ehlers-Danlos syndrome" OR "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" OR "cardiac valvular form of the autosomal recessive Ehlers-Danlos syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ehlers-Danlos syndrome, cardiac valvular form

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

"Cardiac-valvular Ehlers-Danlos syndrome" OR "Cardiac-valvular EDS" OR "cvEDS" OR "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type" OR "EDS, cardiac valvular type" OR "EDSCV" OR "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form" OR "cardiac valvular form of Ehlers-Danlos syndrome" OR "cardiac valvular form of the Ehlers-Danlos syndrome" OR "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" OR "cardiac valvular form of the autosomal recessive Ehlers-Danlos syndrome" OR "Ehlers-Danlos syndrome, cardiac valvular form" OR "COL1A2"

Recall-expansion terms: COL1A2

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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, recall-expansion

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 2026-07-27T10:11:48.683Z