ORPHA:220436
Quebec platelet disorder
Also known as: Factor V Quebec
Publications
23,548
97.1th percentile
Trials
0
Interventional, condition-specific
Researchers
797
Distinct authors in sample
Gene link
PLAU
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
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:0011136
- MeSH:C536260
- OMIM:601709
- UMLS:C1866423
Additional Mondo synonyms (2)
BDPLT5 · factor V Quebec
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
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
Strong — PLAU
- LiteraturePresent
23,548 matched papers (10,624 in last 10 years) Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Menorrhagia; Joint hemorrhage; Impaired epinephrine-induced platelet aggregation) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PLAU).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
6
Associated phenotypes · MONDO:0011136
- Menorrhagia
- Joint hemorrhage
- Impaired epinephrine-induced platelet aggregation
- Epistaxis
- Thrombocytopenia
Showing 5 of 6 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
23,548
23,548 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
23,548 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).
10,624 in the last 10 years · high confidence · 97.1th percentile (publications denominator)
Phrase hits: 144 · MeSH hits: 8
Who's working on it?
797
Distinct author names in 144 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.
- 01Rivard GE24 papers · 2025
Centre Hospitalier Universitaire Sainte Justine Montreal QC Canada.
Papers in Europe PMC - 02Hayward CP22 papers · 2017
Departments of Pathology and Molecular Medicine and Medicine, McMaster University and the Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada. haywrdc@mcmaster.ca
Papers in Europe PMC - 03Hayward CPM15 papers · 2026
Department of Pathology and Molecular Medicine McMaster University Hamilton ON Canada.
Papers in Europe PMC - 04Tasneem S12 papers · 2025
Department of Pathology and Molecular Medicine McMaster University Hamilton ON Canada.
Papers in Europe PMC - 05Diamandis M6 papers · 2010
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Papers in Europe PMC - 06Kahr WH6 papers · 2016
Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;
Papers in Europe PMC - 07Paterson AD6 papers · 2020
Department of Medicine (G.S.D., D.M.A.), Division of Neurology, and Dalla Lana School of Public Health (A.D.P.), University of Toronto, Ontario, Canada; Department of Neurology, Charité-Universitätsmedizin Berlin, and German Center for Neurodegenerative Diseases (DZNE) (H.P.), Berlin, Germany; Department of Rheumatology, Alberta Children's Hospital, and Research Institute (S.M.B.), University of Calgary, Alberta, Canada; The Centre for Applied Genomics (T.A.P., A.D.P.), The Hospital for Sick Children, Toronto, Ontario, Canada; and University Health Network (D.M.A.), Toronto Western Hospital, Toronto, Ontario, Canada.
Papers in Europe PMC - 08Zheng S6 papers · 2001Papers in Europe PMC
- 09Bury L5 papers · 2025
Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;
Papers in Europe PMC - 10Gresele P5 papers · 2025
Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, 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.
high 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 Quebec platelet disorder — check Associations / patient organisations on that page.
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.
("Quebec platelet disorder" OR "Factor V Quebec" OR "BDPLT5") OR (MESH:"Quebec platelet disorder") OR ("PLAU" OR "PLAU syndrome" OR "PLAU-related")MeSH descriptor terms unioned into the query: Quebec platelet disorder
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Quebec platelet disorder" OR "Factor V Quebec" OR "BDPLT5"
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
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 2026-07-27T09:53:36.057Z