Transient myeloproliferative syndrome

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Transient myeloproliferative syndrome

Synonyms: TMD | Transient abnormal myelopoiesis | Transient myeloproliferative disease

A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21 acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia less commonly other cytopenias leukocytosis hepatosplenomegaly jaundice ascites respiratory distress bleeding and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life although some may develop life-threatening hepatic renal or cardiac complications.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


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Clinical Trials

For a list of clinical trials in this disease area, please click here.