eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | down syndrome |
| Comorbidity | C0023418|leukemias |
| Sentences | 6 |
| PubMedID- 21083461 | Acute leukemias in children with down syndrome (ds) are characterized by unique clinical and biological features. |
| PubMedID- 21779441 | Prominent examples include structural mutations in gata1 that are found in almost all megakaryoblastic leukemias in patients with down syndrome; loss of gata3 expression in aggressive, dedifferentiated breast cancers; and silencing of gata4 and gata5 expression in colorectal and lung cancers. |
| PubMedID- 22072402 | Previous cytogenetic studies of myeloid and acute lymphoblastic leukemias in children with down syndrome (ml-ds and ds-all) have revealed significant differences in abnormality patterns between such cases and acute leukemias in general. |
| PubMedID- 20113894 | Acute leukemias in children with down syndrome. |
| PubMedID- 24514166 | Hspb1 also plays a role towards gata1, a transcription factor essential for erythroid differentiation, which is heavily mutated in almost all megakaryoblastic leukemias in patients with down syndrome [213]. |
| PubMedID- 22867885 | Acute leukemias in children with down syndrome. |
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