ORPHA:166087
Von Willebrand disease type 2B
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
95
55.4th percentile
Trials
3
Interventional, condition-specific
Researchers
481
Distinct authors in sample
Gene link
VWF
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015629
- UMLS:C1282971
- NCIT:C131687
Additional Mondo synonyms (2)
von Willebrand disease type 2B · von Willebrand disease, type 2B
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.
- Gene identifiedPresent
Definitive — VWF
- LiteraturePresent
95 matched papers (56 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 trialPresent
3 matched on ClinicalTrials.gov
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?
95
95 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.
95 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).
56 in the last 10 years · high confidence · 55.4th percentile (publications denominator)
Phrase hits: 95 · MeSH hits: 0
Who's working on it?
481
Distinct author names in 95 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.
- 01Denis CV9 papers · 2025
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 02Lenting PJ8 papers · 2016
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 03de Groot PG7 papers · 2019
Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 04Adam F5 papers · 2022
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 05Casari C5 papers · 2025
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 06Christophe OD5 papers · 2016
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 07Kauskot A5 papers · 2022
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC - 08Legendre P5 papers · 2022
Institut National de la Santé et de la Recherche Médicale, UMR_S 1176, Univ. Paris-Sud, Université Paris-Saclay, 94276 Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 09Baronciani L4 papers · 2010
Angelo Bianchi Bonomi Hemophilia Thrombosis Center, Department of Medicine and Medical Specialities, IRCCS Maggiore Hospital, Mangiagalli, Regina Elena Foundation and University of Milan, Milan, Italy
Papers in Europe PMC - 10Bryckaert M4 papers · 2016
INSERM U770, Le Kremlin Bicêtre, France. Université Paris-Sud, Le Kremlin Bicêtre, France. Service Hématologie Biologique, Assistance Publique–Hôpitaux de Paris, Le Kemlin Bicêtre, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same 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 2026-07-26This 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 2B" OR "von Willebrand disease, type 2B"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Von Willebrand disease type 2B" OR "von Willebrand disease, type 2B" 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: 3 interventional · 0 observational · 0 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 2026-07-27T08:20:11.270Z