骨髓增生异常综合征伴孤立型5号染色体长臂异常
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
定义 英文原文（暂无中文）
A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.
别名
5q综合征
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RPS14 | ribosomal protein S14 | Role in the phenotype of |
临床表型 18
极常见 99–80%1
- 骨髓增生异常 HP:0002863
常见 79–30%8
- 红细胞形态异常 HP:0001877
- 巨核细胞形态异常 HP:0012143
- 骨髓细胞过多 HP:0031020
- 红系发育不良 HP:0012133
- 乳酸脱氢酶活性增高 HP:0025435
- 大细胞性贫血 HP:0001972
- 巨核细胞核分叶过少 HP:0031385
- 血小板增多症 HP:0001894
偶见 29–5%9
- 异常出血 HP:0001892
- 骨髓基质细胞异常 HP:0012129
- 中性粒细胞形态异常 HP:0011992
- 急性髓性白血病 HP:0004808
- 红细胞大小不均 HP:0011273
- 骨髓细胞减少 HP:0005528
- 慢性感染 HP:0031035
- 白细胞减少症 HP:0001882
- 多系骨髓增生异常 HP:0012148
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）