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bleeding diathesis due to thromboxane synthesis deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

bleeding diathesis due to thromboxane synthesis deficiency

MONDO:0800446

Overview

A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).

ResearchLimited published research (4 articles)

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 bleeding diathesis due to thromboxane synthesis deficiency.

4 publications have been identified in PubMed for bleeding diathesis due to thromboxane synthesis deficiency. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Rodríguez-Alén A (2025). [PMID: 41301446](https://pubmed.ncbi.nlm.nih.gov/41301446/). *Biomolecules*. [Review / Meta-Analysis]
Xu X (2025). [PMID: 40447106](https://pubmed.ncbi.nlm.nih.gov/40447106/). *J Thromb Haemost*. [Basic Science / Preclinical]
Tondi F (2025). [PMID: 40387003](https://pubmed.ncbi.nlm.nih.gov/40387003/). *IUBMB Life*. [Review / Meta-Analysis]
Scavone M (2024). [PMID: 38832819](https://pubmed.ncbi.nlm.nih.gov/38832819/). *Platelets*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:220443

GARD

Genetic and Rare Diseases Info Center

GARD:17132

Questions for Your Care Team

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bleeding diathesis due to thromboxane synthesis deficiency

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team