Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MONDO:0015912An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.
Also known as: Epstein syndrome, Fechtner syndrome, MYH9-RD, MYH9-related disease, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia, May-Hegglin anomaly
13 clinical trials for this condition and its sub-types.
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New blood product could cut transfusions in major surgeries
Disease control CompletedThis study tested a pathogen-reduced version of cryoprecipitate, a blood product that helps blood clot, in 208 patients undergoing liver transplant or heart surgery. The goal was to see if having this product readily available could stop bleeding early and reduce the need for oth…
Phase: PHASE4 • Sponsor: Weill Medical College of Cornell University • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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New imaging method could speed up diagnosis of blood clotting disorders
Diagnosis CompletedThis study tested a new diagnostic tool that uses imaging flow cytometry to examine platelets in blood samples. Researchers compared it to standard lab tests in 31 patients suspected of having platelet disorders or heparin-induced thrombocytopenia. The goal was to see if the new …
Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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New blood test could unmask hidden bleeding disorders
Diagnosis CompletedThis study tested a new lab method to diagnose platelet function disorders in 322 people with bleeding symptoms. The method uses flow cytometry to detect signaling defects in platelets, which are often missed by standard tests. The goal was to standardize the technique across mul…
Phase: NA • Sponsor: University Hospital, Toulouse • Aim: Diagnosis
Last updated Jun 27, 2026 08:03 UTC
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Scientists hunt for hidden genetic causes of rare bleeding disorder
Knowledge-focused CompletedThis 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