ORPHA:274
Bernard-Soulier syndrome
Also known as: Hemorrhagiparous thrombocytic dystrophy · Giant platelet syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,803
Trials
0
Interventional, condition-specific
Researchers
1,231
Distinct authors in sample
Gene link
GP1BA, GP1BB, GP9
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
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:0009276
- MeSH:D001606
- OMIM:231200
- UMLS:C0005129
- NCIT:C84595
Additional Mondo synonyms (3)
Bernard-Soulier syndrome, type A1 (recessive) · giant platelet disorder, isolated · giant platelet syndrome
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, GP1BB, GP9
- LiteraturePresent
1,803 matched papers (658 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, GP1BB, GP9).
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?
1,803
1,803 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,803 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).
658 in the last 10 years · low confidence
Phrase hits: 1,803 · MeSH hits: 0
Who's working on it?
1,231
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.
- 01Hayward CPM4 papers · 2026
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Papers in Europe PMC - 02Mekchay P4 papers · 2025
Interdisciplinary Program of Biomedical Sciences, Graduate School, Chulalongkorn University, Bangkok, Thailand.
Papers in Europe PMC - 03Rojnuckarin P4 papers · 2025
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Papers in Europe PMC - 04Bakchoul T3 papers · 2026
Institute for Clinical and Experimental Transfusion Medicine, University Hospital Tübingen; Tübingen.
Papers in Europe PMC - 05Bury L3 papers · 2026
Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine, University of Perugia, 06125 Perugia, Italy.
Papers in Europe PMC - 06Gresele P3 papers · 2026
Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine, University of Perugia, 06125 Perugia, Italy.
Papers in Europe PMC - 07Israsena N3 papers · 2025
Stem Cell and Cell Therapy Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Papers in Europe PMC - 08Kunishima S3 papers · 2024
Department of Medical Technology, Gifu University of Medical Science, Gifu, Japan.
Papers in Europe PMC - 09Li R3 papers · 2024
Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Emory University School of Medicine, Atlanta, GA, USA.
Papers in Europe PMC - 10Pecci A3 papers · 2026
Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, 27100 Pavia, 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.
low 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.
"Bernard-Soulier syndrome" OR "Hemorrhagiparous thrombocytic dystrophy" OR "Giant platelet syndrome" OR "Bernard-Soulier syndrome, type A1 (recessive)" OR "giant platelet disorder, isolated"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bernard-Soulier syndrome" OR "Hemorrhagiparous thrombocytic dystrophy" OR "Giant platelet syndrome" OR "Bernard-Soulier syndrome, type A1 (recessive)" OR "giant platelet disorder, isolated" OR "GP1BA" OR "GP1BB" OR "GP9"
Recall-expansion terms: GP1BA, GP1BB, GP9
Study-type breakdown: 0 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
- Publication count (1803) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T13:10:17.882Z