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Autosomal dominant macrothrombocytopenia

MONDO:0015372

This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.

2 clinical trials for this condition and its sub-types.

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Sub-types

Macrothrombocytopenia, isolated, 1, autosomal dominant (0) Macrothrombocytopenia, isolated, 2, autosomal dominant (0) Platelet-type bleeding disorder 15 (0)

Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Thrombocytopenia (70) Blood platelet disease (17) Human disease (14) Disease of genetic or genomic mechanism (2) Inherited thrombocytopenia (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 1 Completed 1

Scientists hunt for clues to fatigue in Low-Platelet patients

Knowledge-focused Recruiting now

This study looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …

Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:01 UTC