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primary release disorder of platelets - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary release disorder of platelets

MONDO:0008309

Also known as:bleeding disorder due to primary defects in platelet release mechanism

Overview

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: Menorrhagia, Abnormal bleeding tendency (abnormal bleeding), Bruising susceptibility, and Spontaneous, recurrent epistaxis.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Abnormal bleeding tendency (abnormal bleeding)

Explore clinical features

Diagnosis

Biomarker and diagnostic research for primary release disorder of platelets 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 primary release disorder of platelets.

77 publications have been identified in PubMed for primary release disorder of platelets. Research spans Basic Science / Preclinical (30%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	23	30%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:176630

GARD

Genetic and Rare Diseases Info Center

GARD:10357

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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primary release disorder of platelets

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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