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ORPHA:466806

Autosomal dominant thrombocytopenia with platelet secretion defect

medium confidenceDisorder

Publications

212

66.8th percentile

Trials

0

Interventional, condition-specific

Researchers

100

Distinct authors in sample

Gene link

SLFN14

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — SLFN14

  2. LiteraturePresent

    212 matched papers (185 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Epistaxis; Menorrhagia; Bruising susceptibility) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 624 for broader category thrombocytopenia

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)

4

Associated phenotypes · MONDO:0014830

  • Epistaxis
  • Menorrhagia
  • Bruising susceptibility
  • Thrombocytopenia

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?

212

212 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=3967) is 59.

212 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).

185 in the last 10 years · medium confidence · 66.8th percentile (publications denominator)

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Morgan NV2 papers · 2024

    Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

    Papers in Europe PMC
  2. 02
    Aleksenko M1 paper · 2023

    Dmitriy Rogachev National Research and Clinical Centre of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation.

    Papers in Europe PMC
  3. 03
    Bendixen C1 paper · 2023

    Institute of Human Genetics, Medical Faculty of the University Bonn & University Hospital Bonn, Bonn, Germany.

    Papers in Europe PMC
  4. 04
    Bode LM1 paper · 2023

    Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany.

    Papers in Europe PMC
  5. 05
    Boemers TM1 paper · 2023

    Department of Pediatric Surgery and Pediatric Urology, Children's Hospital of Cologne Amsterdamer Strasse, Cologne, Germany.

    Papers in Europe PMC
  6. 06
    Buness A1 paper · 2023

    Institute for Medical Biometry, Informatics and Epidemiology, Medical Faculty, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  7. 07
    Bury L1 paper · 2024

    Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.

    Papers in Europe PMC
  8. 08
    Cattaneo M1 paper · 2024

    Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Cooper N1 paper · 2024

    Centre for Haematology, Imperial College London, London, UK.

    Papers in Europe PMC
  10. 10
    Downes 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). 624 trials are registered for thrombocytopenia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

624 interventional trials matched thrombocytopenia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: thrombocytopenia

624

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Autosomal dominant thrombocytopenia with platelet secretion defect — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("SLFN14" OR "SLFN14 syndrome" OR "SLFN14-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombocytopenia"

Query health: ok — strategies attempted: phrase; 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 (212) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T17:02:13.744Z