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ORPHA:903

Von Willebrand disease

high confidenceDisorder

Also known as: Hereditary pseudohaemophilia · Hereditary von Willebrand disease

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

8,299

97.3th percentile

Trials

47

Interventional, condition-specific

Researchers

1,004

Distinct authors in sample

Gene link

VWF

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

congenital von willebrand's disease · hereditary von Willebrand disease · hereditary von Willebrand disease (hereditary or acquired)

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 — VWF

  2. LiteraturePresent

    8,299 matched papers (4,454 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

    47 matched on ClinicalTrials.gov (11 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 (VWF).

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?

8,299

8,299 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

8,299 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).

4,454 in the last 10 years · high confidence · 97.3th percentile (publications denominator)

Phrase hits: 8,299 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,004

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.

  1. 01
    Seidizadeh O11 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Peyvandi F10 papers · 2026

    IRCCS Ca' Granda Ospedale Maggiore Policlinico Foundation, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Casari C6 papers · 2026

    Université Paris-Saclay, INSERM, Hémostase Inflammation Thrombose HITh U1176, Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  4. 04
    Connell NT6 papers · 2026

    Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

    Papers in Europe PMC
  5. 05
    Mannucci PM6 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Flood VH5 papers · 2026

    Department of Pediatrics, Medical College of Wisconsin, Versiti Blood Research Institute, Milwaukee, WI.

    Papers in Europe PMC
  7. 07
    Sidonio RF Jr5 papers · 2026

    Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.

    Papers in Europe PMC
  8. 08
    Susen S5 papers · 2026

    Department of Haemostasis and Transfusion, Lille University Hospital, Lille, France.

    Papers in Europe PMC
  9. 09
    Abdul-Kadir R4 papers · 2026

    The Royal Free NHS Foundation Hospital Institute for Women's Health, University College of London, London, UK.

    Papers in Europe PMC
  10. 10
    Baronciani L4 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

47

interventional trials for this specific condition

47 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 27 July 2026

47 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.9th percentile).

high confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

36 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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.

"Von Willebrand disease" OR "Hereditary pseudohaemophilia" OR "Hereditary von Willebrand disease" OR "congenital von willebrand's disease" OR "hereditary von Willebrand disease (hereditary or acquired)"

Run this search on Europe PMC

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

"Von Willebrand disease" OR "Hereditary pseudohaemophilia" OR "Hereditary von Willebrand disease" OR "congenital von willebrand's disease" OR "hereditary von Willebrand disease (hereditary or acquired)" OR "VWF"

Recall-expansion terms: VWF

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: 47 interventional · 36 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-26T15:51:17.559Z