RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:721

Gray platelet syndrome

low confidenceDisorder

Also known as: Alpha storage pool deficiency · GPS · Platelet alpha-granule deficiency

Publications

983

Trials

0

Interventional, condition-specific

Researchers

1,294

Distinct authors in sample

Gene link

NBEAL2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, and typical gray appearance of platelets on Wright stained peripheral blood smear.

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 (3)

BDPLT4 · gray platelet syndrome · platelet alpha-granule deficiency

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — NBEAL2

  2. LiteraturePresent

    983 matched papers (575 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Abnormality of thrombocytes; Abnormal bleeding; Epistaxis) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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 (NBEAL2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

21

Associated phenotypes · MONDO:0007686

  • Abnormality of thrombocytes
  • Abnormal bleeding
  • Epistaxis
  • Bruising susceptibility
  • Thrombocytopenia

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

983

983 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=3967) is 59.

983 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).

575 in the last 10 years · low confidence

Phrase hits: 673 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,294

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.

  1. 01
    Nurden P13 papers · 2020

    University of Würzburg; Department of Experimental Biomedicine; University Hospital and Rudolf Virchow Center; DFG Research Center for Experimental Biomedicine; Würzburg, Germany ; Plateforme Technologique et d'Innovation Biomédicale; Hôpital Xavier Arnozan; Pessac, France.

    Papers in Europe PMC
  2. 02
    Favier R10 papers · 2023

    Assistance Publique-Hôpitaux de Paris, French national reference center for platelet disorders, Armand Trousseau Children Hospital, F-75012, Paris, France.

    Papers in Europe PMC
  3. 03
    De Candia E8 papers · 2024

    Department of Internal Medicine, Haemostasis Research Centre, Agostino Gemelli Hospital, Catholic University School of Medicine, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Kuijpers TW7 papers · 2025

    Department of Molecular Hematology, Sanquin Research, University of Amsterdam, 1066 CX Amsterdam, the Netherlands.

    Papers in Europe PMC
  5. 05
    Alessi MC6 papers · 2024

    Chair of Fundamental Problems of Medicine, Saint Petersburg State University, St. Petersburg, Russia.

    Papers in Europe PMC
  6. 06
    Glembotsky AC6 papers · 2024

    Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, CONICET, Buenos Aires, Argentina.

    Papers in Europe PMC
  7. 07
    Greinacher A6 papers · 2025

    Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.

    Papers in Europe PMC
  8. 08
    Guerrero JA6 papers · 2020

    Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.

    Papers in Europe PMC
  9. 09
    Heller PG6 papers · 2021

    Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, CONICET, Buenos Aires, Argentina.

    Papers in Europe PMC
  10. 10
    Nurden AT6 papers · 2020

    IFRN 4/CRPP, Laboratoire d'Hématologie, Hôpital Cardiologique, 33604 Pessac, France. Alan.nurden@cnrshl.u-bordeaux2.fr

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

low 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

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 (2)

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 Gray platelet syndrome — 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.

("Gray platelet syndrome" OR "Alpha storage pool deficiency" OR "Platelet alpha-granule deficiency" OR "BDPLT4") OR ("NBEAL2" OR "NBEAL2 syndrome" OR "NBEAL2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Gray platelet syndrome" OR "Alpha storage pool deficiency" OR "Platelet alpha-granule deficiency" OR "BDPLT4"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: GPS

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
  • Publication count (983) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:02:12.388Z