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gray platelet syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gray platelet syndrome

MONDO:0007686

Also known as:Alpha storage pool deficiencyBDPLT4GPS

Overview

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

GeneticsAutosomal recessive · NBEAL2 (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Menorrhagia, Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, and Abnormal number of alpha granules and 9 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Impaired thrombin-induced platelet aggregation

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NBEAL2 encodes neurobeachin like 2 (2,754 aa). Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis Highest expression in Whole Blood (178.3 TPM) and Esophagus Mucosa (135.0 TPM).

Gray platelet syndrome is caused by mutations in the NBEAL2 gene on chromosome 3.

NBEAL2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NBEAL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for gray platelet syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for gray platelet syndrome.

17 publications have been identified in PubMed for gray platelet syndrome. Research spans Case Report / Case Series (41%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	7	41%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:139090

Orphanet

European rare disease database

Orphanet:721

GARD

Genetic and Rare Diseases Info Center

GARD:2562

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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gray platelet syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

gray platelet syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications