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marcothrombocytopenia with mitral valve insufficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

marcothrombocytopenia with mitral valve insufficiency

MONDO:0016360

Overview

Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.

Diagnosis

Biomarker and diagnostic research for marcothrombocytopenia with mitral valve insufficiency 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 marcothrombocytopenia with mitral valve insufficiency.

200 publications have been identified in PubMed for marcothrombocytopenia with mitral valve insufficiency. Kisho has analyzed 88 by research type. Research spans Clinical Trial Publication (32%), Review / Meta-Analysis (26%), and Other (19%).

Research Type	Count	% of Total
Clinical study results	28	32%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:220448

GARD

Genetic and Rare Diseases Info Center

GARD:20538

Questions for Your Care Team

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marcothrombocytopenia with mitral valve insufficiency

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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