Marcothrombocytopenia with mitral valve insufficiency

MONDO:0016360

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.

2 clinical trials for this condition and its sub-types, 0 tagged with Marcothrombocytopenia with mitral valve insufficiency itself.

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Where it sits in the disease tree

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↑ Syndromic constitutional thrombocytopenia (8)

Including sub-types (2) Tagged with Marcothrombocytopenia with mitral valve insufficiency (0)

Trials to join now! 1 Completed 1

Scientists hunt for hidden genetic causes of rare bleeding disorder

Knowledge-focused Completed

This study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…

Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Knowledge-focused

Last updated Jul 01, 2026 00:00 UTC

Marcothrombocytopenia with mitral valve insufficiency

Where it sits in the disease tree

Scientists hunt for hidden genetic causes of rare bleeding disorder