急性早幼粒细胞白血病
Acute promyelocytic leukemia
ORPHA:520疾病
定义 英文原文（暂无中文）
An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.
别名
急性早幼粒细胞白血病伴t(15;17)(q22;q12)PML/RARalpha与变异
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、老年期
- 患病率
- 1-9 / 1 000 000（United States）
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PML | PML nuclear body scaffold | Part of a fusion gene in |
| PRKAR1A | protein kinase cAMP-dependent type I regulatory subunit alpha | Part of a fusion gene in |
| RARA | retinoic acid receptor alpha | Part of a fusion gene in |
| BCOR | BCL6 corepressor | Part of a fusion gene in |
| STAT5B | signal transducer and activator of transcription 5B | Part of a fusion gene in |
| FIP1L1 | factor interacting with PAPOLA and CPSF1 | Part of a fusion gene in |
| STAT3 | signal transducer and activator of transcription 3 | Part of a fusion gene in |
| NPM1 | nucleophosmin 1 | Part of a fusion gene in |
| NABP1 | nucleic acid binding protein 1 | Part of a fusion gene in |
| ZBTB16 | zinc finger and BTB domain containing 16 | Part of a fusion gene in |
| NUMA1 | nuclear mitotic apparatus protein 1 | Part of a fusion gene in |
| TBL1XR1 | TBL1X/Y related 1 | Part of a fusion gene in |
| IRF2BP2 | interferon regulatory factor 2 binding protein 2 | Part of a fusion gene in |
临床表型 36
常见 79–30%21
- 异常出血 HP:0001892
- 贫血 HP:0001903
- 厌食症 HP:0002039
- 骨髓细胞过多 HP:0031020
- 瘀斑易感性 HP:0000978
- 慢性感染 HP:0031035
- 弥漫性血管内凝血 HP:0005521
- 瘀斑 HP:0031364
- 鼻衄 HP:0000421
- 劳力性呼吸困难 HP:0002875
- 疲乏 HP:0012378
- 发热 HP:0001945
- 牙龈出血 HP:0000225
- 白细胞减少症 HP:0001882
- 肌无力 HP:0001324
- 全血细胞减少症 HP:0001876
- 瘀点 HP:0000967
- 紫癜 HP:0000979
- 血小板减少症 HP:0001873
- 眩晕 HP:0002321
- 体重减轻 HP:0001824
偶见 29–5%12
- 腹痛 HP:0002027
- 酗酒 HP:0030955
- 骨痛 HP:0002653
- 中性粒细胞减少症 HP:0001875
- 弥漫性肺泡出血 HP:0025420
- 牙龈增生 HP:0000212
- 低纤维蛋白原血症 HP:0011900
- 白细胞增多症 HP:0001974
- 淋巴结肿大 HP:0002716
- 口腔出血 HP:0030140
- 痰咳 HP:0031245
- 口腔炎 HP:0010280
罕见 <4–1%3
- 坏疽 HP:0100758
- 血尿 HP:0000790
- 子宫出血 HP:0100608
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）