ORPHA:166078
Von Willebrand disease type 1
Publications
388
79.3th percentile
Trials
1
Interventional, condition-specific
Researchers
1,005
Distinct authors in sample
Gene link
VWF
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008668
- MeSH:D056725
- OMIM:193400
- UMLS:C1264039
- NCIT:C131685
Additional Mondo synonyms (5)
VWD1 · von Willebrand disease 1 · von Willebrand disease type 1 · von Willebrand's disease type 1 · von willebrand's disease 1
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
Strong — VWF
- LiteraturePresent
388 matched papers (207 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
1 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: Strong.
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?
388
388 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.
388 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).
207 in the last 10 years · medium confidence · 79.3th percentile (publications denominator)
Phrase hits: 388 · MeSH hits: 8
Who's working on it?
1,005
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.
- 01Peyvandi F7 papers · 2023
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and University of Milan, Milan, Italy.
Papers in Europe PMC - 02Baronciani L6 papers · 2023
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy.
Papers in Europe PMC - 03Cnossen MH6 papers · 2024
Department of Pediatric Hematology, Erasmus University Medical Center/Sophia Children's Hospital, Rotterdam, The Netherlands.
Papers in Europe PMC - 04Leebeek FWG6 papers · 2025
Department of Haematology, Erasmus University Medical Center-Erasmus MC, Rotterdam, The Netherlands.
Papers in Europe PMC - 05Budde U5 papers · 2020
6 Central Laboratory, Asklepios Kliniken, Hamburg, Germany.
Papers in Europe PMC - 06Castaman G5 papers · 2020
Department of Cellular Therapy and Hematology, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it
Papers in Europe PMC - 07Eikenboom J5 papers · 2025
Department of Thrombosis and Hemostasis, Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, the Netherlands.
Papers in Europe PMC - 08Haberichter SL5 papers · 2026
Department of Pediatrics, Division of Hematology/Oncology, Medical College of Wisconsin.
Papers in Europe PMC - 09Lavin M5 papers · 2026
Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.
Papers in Europe PMC - 10Lethagen S5 papers · 2018
National Haemophilia Center, University Hospital, Rigshospitalet, Copenhagen, Denmark.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
Observational and natural-history studies
1 observational study matches 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.
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 1" OR "von Willebrand disease 1" OR "von Willebrand's disease type 1" OR "von willebrand's disease 1"
MeSH descriptor terms unioned into the query: von Willebrand Disease, Type 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Von Willebrand disease type 1" OR "von Willebrand disease 1" OR "von Willebrand's disease type 1" OR "von willebrand's disease 1" OR "von Willebrand Disease, Type 1" OR "VWF"
Recall-expansion terms: VWF
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: 1 interventional · 1 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: VWD1
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 2026-07-27T08:19:37.581Z