Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

MONDO:0014758

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.

Also known as: MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome, RUSAT2, radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2, radioulnar synostosis with amegakaryocytic thrombocytopenia type 2

3 clinical trials for this condition and its sub-types, 0 tagged with Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 itself.

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↑ MECOM-associated syndrome (0) ↑ Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome (0)

Including sub-types (3) Tagged with Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (0)

Trials to join now! 1 Completed 2

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 …

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

Last updated Jun 27, 2026 09:01 UTC

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Where it sits in the disease tree

Scientists hunt for clues to fatigue in Low-Platelet patients