ORPHA:721
Gray platelet syndrome
Also known as: Alpha storage pool deficiency · GPS · Platelet alpha-granule deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
673
Trials
0
Interventional, condition-specific
Researchers
1,294
Distinct authors in sample
Gene link
NBEAL2
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007686
- MeSH:D055652
- OMIM:139090
- UMLS:C0272302
- NCIT:C84741
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.”
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 — NBEAL2
- LiteraturePresent
673 matched papers (320 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 (NBEAL2).
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?
673
673 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.
673 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).
320 in the last 10 years · low confidence
Phrase hits: 673 · MeSH hits: 0
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.
- 01Nurden 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 - 02Favier 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 - 03De 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 - 04Kuijpers TW7 papers · 2025
Department of Molecular Hematology, Sanquin Research, University of Amsterdam, 1066 CX Amsterdam, the Netherlands.
Papers in Europe PMC - 05Alessi MC6 papers · 2024
Chair of Fundamental Problems of Medicine, Saint Petersburg State University, St. Petersburg, Russia.
Papers in Europe PMC - 06Glembotsky AC6 papers · 2024
Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, CONICET, Buenos Aires, Argentina.
Papers in Europe PMC - 07Greinacher A6 papers · 2025
Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.
Papers in Europe PMC - 08Guerrero JA6 papers · 2020
Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Papers in Europe PMC - 09Heller PG6 papers · 2021
Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, CONICET, Buenos Aires, Argentina.
Papers in Europe PMC - 10Nurden 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 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.
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.
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.
"Gray platelet syndrome" OR "Alpha storage pool deficiency" OR "Platelet alpha-granule deficiency" OR "BDPLT4"
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" OR "NBEAL2"
Recall-expansion terms: NBEAL2
Study-type breakdown: 0 interventional · 1 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
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 (673) 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