Chromosome 5q Deletion Syndrome (MAR)

5号染色体长臂缺失综合征(来自ICD-11)

别称:

5q- Syndrome

Myelodysplastic Syndrome Associated with Isolated Del Chromosome Abnormality

Macrocytic Anemia, Refractory, Due to 5q Deletion, Somatic

Myelodysplastic Syndrome with Isolated Del

Mar

5q- Syndrome, Refractory Macrocytic Anemia Due to 5q Deletion

Anemia, Macrocytic, Refractory, Due to 5q Deletion, Somatic

Myelodysplastic Syndrome with 5q Deletion Syndrome

Macrocytic Anemia, Refractory, Due to 5q Deletion

Refractory Macrocytic Anemia Due to 5q Deletion

Myelodysplastic Syndrome with 5q Deletion

Chromosome 5, Trisomy 5q

Chromosome 5q Deletion

Loss of Chromosome 5q

5q Minus Syndrome

5 Q- Syndrome

5q-Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

5q染色体缺失综合症，也称为5q-综合症，与巨幼细胞性贫血和急性髓系白血病有关。与5q染色体缺失综合症相关的基因是RPS14（核糖体蛋白S14），其相关通路/超级通路包括流感感染和SARS-CoV-1宿主相互作用。在该疾病的背景下提到了他克莫司和甲氨蝶呤。附属组织包括骨髓和髓系，相关表型为骨髓增生异常和巨幼细胞性贫血。

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