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platelet storage pool deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet storage pool deficiency

MONDO:0008495

Also known as:alpha dense granule deficiencycombined alpha-delta platelet storage pool deficiencydense body defect

Overview

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.

GeneticsAutosomal dominant

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: Abnormal bleeding tendency (abnormal bleeding), Acute leukemia, Prolonged bleeding time, and Myelodysplasia and 1 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Decreased mean platelet volume

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Diagnosis

Biomarker and diagnostic research for platelet storage pool deficiency has been reported in the published literature.

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 platelet storage pool deficiency.

72 publications have been identified in PubMed for platelet storage pool deficiency. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	24	33%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:04 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:185050

Orphanet

European rare disease database

Orphanet:734

GARD

Genetic and Rare Diseases Info Center

GARD:5034

Questions for Your Care Team

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platelet storage pool deficiency

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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