eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | down syndrome |
| Comorbidity | C0023462|acute megakaryocytic leukemia |
| Sentences | 2 |
| PubMedID- 20007548 | The transient myeloproliferative disorder and acute megakaryocytic leukemia associated with down syndrome are uniquely associated with mutations in the transcription factor gata1; however, the identity of trisomic genes on chromosome 21 that predispose to these hematologic disorders remains unknown. |
| PubMedID- 23874683 | Furthermore, pediatric down syndrome (ds) patients with acute megakaryocytic leukemia (amkl), whose blast cells almost universally harbor somatic mutations in exon 2 of the transcription factor gene gata1, demonstrate increased overall survival relative to non-ds pediatric patients, suggesting a potential role for gata1 in chemotherapy response. |
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