原发性嗜酸性粒细胞增多综合征
Primary hypereosinophilic syndrome
ORPHA:314950疾病
定义 英文原文（暂无中文）
A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others.
别名
肿瘤性嗜酸性粒细胞增多综合征
基本事实
- 发病年龄
- 各年龄段
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FGFR1 | fibroblast growth factor receptor 1 | Part of a fusion gene in |
| FIP1L1 | factor interacting with PAPOLA and CPSF1 | Part of a fusion gene in |
| PDGFRA | platelet derived growth factor receptor alpha | Part of a fusion gene in |
| PDGFRB | platelet derived growth factor receptor beta | Part of a fusion gene in |
| ETV6 | ETS variant transcription factor 6 | Part of a fusion gene in |
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）