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ORPHA:166096

Von Willebrand disease type 3

medium confidenceSubtype of disorder

Publications

245

70.4th percentile

Trials

2

Interventional, condition-specific

Researchers

1,131

Distinct authors in sample

Gene link

VWF

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

VWD3 · von Willebrand disease 3 · von Willebrand disease type 3 · von Willebrand's disease 3 · von Willebrand's disease type 3

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

    Strong — VWF

  2. LiteraturePresent

    245 matched papers (127 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

    2 matched on ClinicalTrials.gov (2 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: Strong.

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?

245

245 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.

245 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).

127 in the last 10 years · medium confidence · 70.4th percentile (publications denominator)

Phrase hits: 245 · MeSH hits: 9

Open Europe PMC search

Who's working on it?

1,131

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
    Federici AB11 papers · 2023

    Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Oncology and Oncohematology, University of Milan, Milan, Italy; and.

    Papers in Europe PMC
  2. 02
    Schneppenheim R10 papers · 2023

    Department of Pediatric Hematology and Oncology, University Medical Centre, Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  3. 03
    Budde U9 papers · 2023

    Hemostaseology Medilys Laborgesellschaft mbH, Hamburg, Germany.

    Papers in Europe PMC
  4. 04
    Oldenburg J9 papers · 2024

    Institute of Experimental Haematology and Transfusion Medicine, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  5. 05
    Peyvandi F9 papers · 2025

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

    Papers in Europe PMC
  6. 06
    Lillicrap D8 papers · 2024

    Department of Pathology and Molecular Medicine, Queen's University, Kingston, ON, Canada.

    Papers in Europe PMC
  7. 07
    Baronciani L7 papers · 2025

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

    Papers in Europe PMC
  8. 08
    Castaman G7 papers · 2023

    Center for Bleeding Disorders and Coagulation, Careggi University Hospital, Florence, Italy.

    Papers in Europe PMC
  9. 09
    Eikenboom J7 papers · 2023

    Department of Internal Medicine, Division of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  10. 10
    Goudemand J7 papers · 2023

    Univ. Lille, CHU Lille, Haematology and Transfusion, Lille, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as 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 type 3" OR "von Willebrand disease 3" OR "von Willebrand's disease 3" OR "von Willebrand's disease type 3"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: von Willebrand Disease, Type 3

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

"Von Willebrand disease type 3" OR "von Willebrand disease 3" OR "von Willebrand's disease 3" OR "von Willebrand's disease type 3" OR "von Willebrand Disease, Type 3" OR "VWF"

Recall-expansion terms: VWF

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

Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: VWD3

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

Ingested 2026-07-27T08:20:44.363Z