家族性胸主动脉瘤和主动脉夹层
Familial thoracic aortic aneurysm and aortic dissection
定义 英文原文（暂无中文）
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
别名
家族性TAAD
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、儿童期
- 患病率
- <1 / 1 000 000
相关基因 20
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SMAD4 | SMAD family member 4 | Disease-causing germline mutation(s) in |
| TGFB2 | transforming growth factor beta 2 | Disease-causing germline mutation(s) in |
| TGFB3 | transforming growth factor beta 3 | Disease-causing germline mutation(s) (loss of function) in |
| TGFBR1 | transforming growth factor beta receptor 1 | Disease-causing germline mutation(s) in |
| TGFBR2 | transforming growth factor beta receptor 2 | Disease-causing germline mutation(s) in |
| EFEMP2 | EGF-like fibulin extracellular matrix protein 2 | Disease-causing germline mutation(s) in |
| ELN | elastin | Candidate gene tested in |
| FBN1 | fibrillin 1 | Disease-causing germline mutation(s) in |
| FOXE3 | forkhead box E3 | Disease-causing germline mutation(s) in |
| MYH11 | myosin heavy chain 11 | Disease-causing germline mutation(s) in |
| ACTA2 | actin alpha 2, smooth muscle | Disease-causing germline mutation(s) in |
| MYLK | myosin light chain kinase | Disease-causing germline mutation(s) in |
| SMAD3 | SMAD family member 3 | Disease-causing germline mutation(s) in |
| PRKG1 | protein kinase cGMP-dependent 1 | Disease-causing germline mutation(s) (gain of function) in |
| MFAP5 | microfibril associated protein 5 | Disease-causing germline mutation(s) (loss of function) in |
| LOX | lysyl oxidase | Disease-causing germline mutation(s) (loss of function) in |
| HEY2 | hes related family bHLH transcription factor with YRPW motif 2 | Disease-causing germline mutation(s) (loss of function) in |
| SMAD2 | SMAD family member 2 | Disease-causing germline mutation(s) (loss of function) in |
| MAT2A | methionine adenosyltransferase 2A | Candidate gene tested in |
| THSD4 | thrombospondin type 1 domain containing 4 | Disease-causing germline mutation(s) in |
临床表型 42
极常见 99–80%3
- 结缔组织异常 HP:0003549
- 大理石样皮肤 HP:0000965
- 粘液样细胞外基质积聚 HP:0200146
常见 79–30%11
- 左心室功能异常 HP:0005162
- 虹膜形态异常 HP:0000525
- 主动脉瓣反流 HP:0001659
- 升主动脉夹层 HP:0004933
- 心脏扩大 HP:0001640
- 胸痛 HP:0100749
- 冠状动脉粥样硬化 HP:0001677
- 降主动脉夹层 HP:0012499
- 劳力性呼吸困难 HP:0002875
- 高血压 HP:0000822
- 突发性呼吸困难 HP:0012763
偶见 29–5%28
- 腹主动脉瘤 HP:0005112
- 胸骨形态异常 HP:0000766
- 主动脉夹层 HP:0002647
- 主动脉根部瘤 HP:0002616
- 细长指(趾) HP:0001166
- 二叶主动脉瓣 HP:0001647
- 瘀斑易感性 HP:0000978
- 颈动脉扩张 HP:0012163
- 胸降主动脉动脉瘤 HP:0004959
- 脑动脉扩张 HP:0004944
- 硬膜扩张 HP:0100775
- 咯血 HP:0002105
- 腭高而窄 HP:0002705
- 眼距过宽 HP:0000316
- 血容量不足 HP:0011106
- 腹股沟疝 HP:0000023
- 缺血性脑卒中 HP:0002140
- 动脉导管未闭 HP:0001643
- 外周动脉狭窄 HP:0004950
- 扁平足 HP:0001763
- 气胸 HP:0002107
- 孕史 HP:0002686
- 下颌后缩 HP:0000278
- 脊柱侧弯 HP:0002650
- 卒中 HP:0001297
- 蛛网膜下腔出血 HP:0002138
- 高身材 HP:0000098
- 短暂性脑缺血发作 HP:0002326
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）