家族性心房粘液瘤
Familial atrial myxoma
ORPHA:615疾病
定义 英文原文（暂无中文）
A rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRKAR1A | protein kinase cAMP-dependent type I regulatory subunit alpha | Disease-causing germline mutation(s) in |
临床表型 18
必现 100%1
- 心脏粘液瘤 HP:0011672
极常见 99–80%2
- 心脏杂音 HP:0030148
- 肺动脉瓣粘液瘤 HP:0006691
常见 79–30%2
- 易疲劳性 HP:0003388
- 劳力性呼吸困难 HP:0002875
偶见 29–5%11
- 腹水 HP:0001541
- 细菌性心内膜炎 HP:0006689
- 心脏扩大 HP:0001640
- 胸痛 HP:0100749
- 胆汁淤积 HP:0001396
- 充血性心力衰竭 HP:0001635
- 发热 HP:0001945
- 黄疸 HP:0000952
- 下肢水肿 HP:0010741
- 血栓栓塞症 HP:0001907
- 三尖瓣反流 HP:0005180
罕见 <4–1%2
- 血管扩张 HP:0002617
- 脑动脉扩张 HP:0004944
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）