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ORPHA:166096

Von Willebrand disease type 3

medium confidenceSubtype of disorder

Publications

488

73.5th percentile

Trials

2

Interventional, condition-specific

Researchers

1,131

Distinct authors in sample

Gene link

VWF

Strong

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — VWF

  2. LiteraturePresent

    488 matched papers (273 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Menorrhagia; Abnormal bleeding; Prolonged bleeding after surgery) 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 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)

12

Associated phenotypes · MONDO:0010191

  • Menorrhagia
  • Abnormal bleeding
  • Prolonged bleeding after surgery
  • Epistaxis
  • Joint hemorrhage

Showing 5 of 12 — 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?

488

488 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=3967) is 59.

488 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).

273 in the last 10 years · medium confidence · 73.5th 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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

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 41 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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).

Uncertain / not reviewed (40)

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 Von Willebrand disease type 3 — 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.

("Von Willebrand disease type 3" OR "von Willebrand disease 3" OR "von Willebrand's disease 3" OR "von Willebrand's disease type 3") OR (MESH:"von Willebrand Disease, Type 3") OR ("VWF syndrome" OR "VWF-related")

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"

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; 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