ORPHA:166081
Von Willebrand disease type 2
Publications
357
75.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,049
Distinct authors in sample
Gene link
VWF
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013304
- MeSH:D056728
- OMIM:613554
- UMLS:C1264040
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — VWF
- LiteraturePresent
357 matched papers (168 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
357
357 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.
357 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).
168 in the last 10 years · medium confidence · 75.9th percentile (publications denominator)
Phrase hits: 357 · MeSH hits: 10
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.
- 01Peyvandi 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 - 02Favaloro 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 - 03Baronciani 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 - 04Budde U7 papers · 2023
6 Central Laboratory, Asklepios Kliniken, Hamburg, Germany.
Papers in Europe PMC - 05Pagliari 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 - 06Denis 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 - 07Leebeek FWG6 papers · 2026
Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
Papers in Europe PMC - 08Lenting 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 - 09Schneppenheim R6 papers · 2023
Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. schneppenheim@uke.de
Papers in Europe PMC - 10Siboni 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 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.
medium 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 2026-07-26This 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"
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" OR "VWF" OR "von Willebrand disease (hereditary or acquired)"
Recall-expansion terms: VWF, von Willebrand disease (hereditary or acquired)
Study-type breakdown: 0 interventional · 0 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: 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