RARE DISEASERESEARCH ATLAS

ORPHA:717611

Capillary-venous malformation

low confidenceDisorder

Also known as: CVM · Capillary-venulous malformation

Publications

127

Trials

0

Interventional, condition-specific

Researchers

735

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Orphanet entry

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    127 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

127

127 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.

127 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 · low confidence

Phrase hits: 127 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

735

Distinct author names in 127 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
    Vikkula M9 papers · 2025

    Human Molecular Genetics, Christian de Duve Institute, Université catholique de Louvain, Brussels, Belgium

    Papers in Europe PMC
  2. 02
    Boon LM6 papers · 2024

    Division of Plastic Surgery, Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium.

    Papers in Europe PMC
  3. 03
    Mulliken JB6 papers · 2015
    Papers in Europe PMC
  4. 04
    Comi AM5 papers · 2025

    Department of Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Johns Hopkins Hospital, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: comi@kennedykrieger.org.

    Papers in Europe PMC
  5. 05
    Hammill AM4 papers · 2025

    Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio; Cancer and Blood Diseases Institute, Division of Hematology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

    Papers in Europe PMC
  6. 06
    Adams DM3 papers · 2024

    Vascular Anomalies Center, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, United States.

    Papers in Europe PMC
  7. 07
    Biesecker LG3 papers · 2021

    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  8. 08
    Liang MG3 papers · 2025

    Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.

    Papers in Europe PMC
  9. 09
    Seront E3 papers · 2024

    Center for Vascular Anomalies, Cliniques universitaires Saint-Luc, University of Louvain, VASCERN VASCA European Reference Centre, Brussels, Belgium.

    Papers in Europe PMC
  10. 10
    Wassef M3 papers · 2025

    Department of Pathology, Hôpital Lariboisière, Assistance Publique - Hôpitaux de Paris; Paris Cité University, Paris, France.

    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).

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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.

"Capillary-venous malformation" OR "Capillary-venulous malformation"

Run this search on Europe PMC

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

"Capillary-venous malformation" OR "Capillary-venulous malformation"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CVM

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
  • No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low

Ingested 2026-07-27T21:14:20.986Z