ORPHA:52530
Pseudo-von Willebrand disease
Also known as: PT-VWD · Platelet type-von Willebrand disease · Pseudo-von Willebrand disease type 2B
Publications
237
67.2th percentile
Trials
0
Interventional, condition-specific
Researchers
793
Distinct authors in sample
Gene link
GP1BA
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008332
- MeSH:C536458
- OMIM:177820
- UMLS:C1280798
- NCIT:C131681
Additional Mondo synonyms (5)
BDPLT3 · platelet type-von Willebrand disease · platelet-type von Willebrand disease · pseudo-von Willebrand disease · pseudo-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.”
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 — GP1BA
- LiteraturePresent
237 matched papers (105 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 (GP1BA).
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?
237
237 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.
237 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).
105 in the last 10 years · medium confidence · 67.2th percentile (publications denominator)
Phrase hits: 237 · MeSH hits: 1
Who's working on it?
793
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.
- 01Othman M26 papers · 2026
Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada School of Baccalaureate Nursing, St Lawrence College, Kingston, Ontario, Canada othman@queensu.ca.
Papers in Europe PMC - 02Favaloro EJ13 papers · 2023
Department of Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research, Pathology West, NSW Health Pathology, Westmead Hospital, Westmead, NSW, Australia.
Papers in Europe PMC - 03Gresele P13 papers · 2026
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy paolo.gresele@unipg.it.
Papers in Europe PMC - 04Bury L9 papers · 2026
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy.
Papers in Europe PMC - 05Miller JL8 papers · 2015
Department of Pathology, SUNY Health Science Center, Syracuse, N.Y.
Papers in Europe PMC - 06Takahashi H7 papers · 1998
First Department of Internal Medicine, Niigata University School of Medicine, Japan.
Papers in Europe PMC - 07Ware J7 papers · 2017Papers in Europe PMC
- 08Falcinelli E6 papers · 2026
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy.
Papers in Europe PMC - 09Freson K6 papers · 2025
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;
Papers in Europe PMC - 10Springer TA6 papers · 2021
Program in Cellular and Molecular Medicine and Division of Hematology, Department of Medicine, Boston Children's Hospital, and Department of Biological Chemistry and Pharmacology, Harvard Medical School, Boston, MA.
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.
"Pseudo-von Willebrand disease" OR "PT-VWD" OR "Platelet type-von Willebrand disease" OR "Pseudo-von Willebrand disease type 2B" OR "BDPLT3" OR "platelet-type von Willebrand disease"
MeSH descriptor terms unioned into the query: Von Willebrand disease, platelet type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pseudo-von Willebrand disease" OR "PT-VWD" OR "Platelet type-von Willebrand disease" OR "Pseudo-von Willebrand disease type 2B" OR "BDPLT3" OR "platelet-type von Willebrand disease" OR "Von Willebrand disease, platelet type" OR "GP1BA" OR "von Willebrand disease (hereditary or acquired)"
Recall-expansion terms: GP1BA, 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (237) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T00:50:24.296Z