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ORPHA:166081

Von Willebrand disease type 2

medium confidenceSubtype of disorder

Publications

600

76.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,049

Distinct authors in sample

Gene link

VWF

Definitive

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 qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.

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 (6)

VWD2 · von Willebrand disease 2 · von Willebrand disease type 2 · von Willebrand disease, types 2A, 2B, 2M, and 2N · von Willebrand's disease type 2 · von willebrand's disease 2

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — VWF

  2. LiteraturePresent

    600 matched papers (311 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Bruising susceptibility; Epistaxis; Thrombocytopenia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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?

Yes — we know a specific gene responsible (VWF).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

4

Associated phenotypes · MONDO:0013304

  • Bruising susceptibility
  • Epistaxis
  • Thrombocytopenia
  • Menorrhagia

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

600

600 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

600 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).

311 in the last 10 years · medium confidence · 76.6th percentile (publications denominator)

Phrase hits: 357 · MeSH hits: 10

Open Europe PMC search

Who's working on it?

1,049

Distinct author names in 200 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
    Peyvandi F11 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Favaloro EJ9 papers · 2023

    Department of Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), Pathology West, NSW Health Pathology, Westmead Hospital, Westmead, NSW, Australia.

    Papers in Europe PMC
  3. 03
    Baronciani L8 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Budde U7 papers · 2023

    6 Central Laboratory, Asklepios Kliniken, Hamburg, Germany.

    Papers in Europe PMC
  5. 05
    Pagliari MT7 papers · 2024

    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, U.O.S. Dipartimentale per la Diagnosi e la Terapia delle Coagulopatie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Universita' degli Studi di Milano and Fondazione Luigi Villa, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Denis CV6 papers · 2025

    Laboratory for Hemostasis, Inflammation and Thrombosis, Unité Mixed de Recherche S1176, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  7. 07
    Leebeek FWG6 papers · 2026

    Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.

    Papers in Europe PMC
  8. 08
    Lenting PJ6 papers · 2026

    Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche Scientifique, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  9. 09
    Schneppenheim R6 papers · 2023

    Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. schneppenheim@uke.de

    Papers in Europe PMC
  10. 10
    Siboni SM6 papers · 2026

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

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

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 101 · after dedupe 94 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 94 · 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 (94)

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 2 — 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 2" OR "von Willebrand disease 2" OR "von Willebrand disease, types 2A, 2B, 2M, and 2N" OR "von Willebrand's disease type 2" OR "von willebrand's disease 2") OR (MESH:"von Willebrand Disease, Type 2") OR ("VWF syndrome" OR "VWF-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: von Willebrand Disease, Type 2

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

"Von Willebrand disease type 2" OR "von Willebrand disease 2" OR "von Willebrand disease, types 2A, 2B, 2M, and 2N" OR "von Willebrand's disease type 2" OR "von willebrand's disease 2" OR "von Willebrand Disease, Type 2"

Study-type breakdown: 0 interventional · 0 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: VWD2

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 2026-07-27T08:19:54.667Z