ORPHA:466806
Autosomal dominant thrombocytopenia with platelet secretion defect
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
6
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
100
Distinct authors in sample
Gene link
SLFN14
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.
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:0014830
- OMIM:616913
- UMLS:C4310797
Additional Mondo synonyms (5)
BDPLT20 · SLFN14 inherited bleeding disorder, platelet-type · autosomal dominant thrombocytopenia with platelet secretion defect · bleeding disorder, platelet-type, 20 · inherited bleeding disorder, platelet-type caused by mutation in SLFN14
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
Strong — SLFN14
- LiteraturePresent
6 matched papers (6 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 (SLFN14).
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?
6
6 papers have ever been indexed 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.
6 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).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
Phrase hits: 6 · MeSH hits: 0
Who's working on it?
100
Distinct author names in 6 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.
- 01Morgan NV2 papers · 2024
Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Papers in Europe PMC - 02Aleksenko M1 paper · 2023
Dmitriy Rogachev National Research and Clinical Centre of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation.
Papers in Europe PMC - 03Bendixen C1 paper · 2023
Institute of Human Genetics, Medical Faculty of the University Bonn & University Hospital Bonn, Bonn, Germany.
Papers in Europe PMC - 04Bode LM1 paper · 2023
Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany.
Papers in Europe PMC - 05Boemers TM1 paper · 2023
Department of Pediatric Surgery and Pediatric Urology, Children's Hospital of Cologne Amsterdamer Strasse, Cologne, Germany.
Papers in Europe PMC - 06Buness A1 paper · 2023
Institute for Medical Biometry, Informatics and Epidemiology, Medical Faculty, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 07Bury L1 paper · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 08Cattaneo M1 paper · 2024
Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 09Cooper N1 paper · 2024
Centre for Haematology, Imperial College London, London, UK.
Papers in Europe PMC - 10Downes K1 paper · 2024
Department of Haematology, University of Cambridge, Cambridge, UK.
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.
high 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.
"Autosomal dominant thrombocytopenia with platelet secretion defect" OR "BDPLT20" OR "SLFN14 inherited bleeding disorder, platelet-type" OR "bleeding disorder, platelet-type, 20" OR "inherited bleeding disorder, platelet-type caused by mutation in SLFN14"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant thrombocytopenia with platelet secretion defect" OR "BDPLT20" OR "SLFN14 inherited bleeding disorder, platelet-type" OR "bleeding disorder, platelet-type, 20" OR "inherited bleeding disorder, platelet-type caused by mutation in SLFN14" OR "SLFN14"
Recall-expansion terms: SLFN14
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
Ingested 2026-07-27T17:02:13.744Z