学因网基因：ACTA2；
与ACTA2基因相关的CHPO中文疾病症状表型：胸痛,颈动脉瘤,血容量不足,短暂性脑缺血发作,降主动脉夹层,高身材,胸降主动脉扩张,硬脑膜扩张,动脉导管未闭,细长指(趾),蛛网膜下腔出血,高血压,劳力性呼吸困难,下颌后缩,心脏扩大,咯血,左心室功能受损,胸骨异常,脊柱侧弯,扁平足,腹主动脉扩张,腹股沟疝,升主动脉夹层,冠状动脉疾病,缺血性脑卒中,瘀斑易感性,虹膜异常,气胸,大理石样皮肤,突发性呼吸困难,主动脉瓣反流,眼距过宽,外周动脉病,主动脉根部扩张,主动脉囊性中层坏死,二叶主动脉瓣,脑动脉瘤,产前母体异常,腭高而窄；
与ACTA2基因相关的HPO英文疾病症状表型：Chest pain,Carotid artery dilatation,Hypovolemia,Transient ischemic attack,Descending aortic dissection,Tall stature,Descending thoracic aorta aneurysm,Dural ectasia,Patent ductus arteriosus,Arachnodactyly,Subarachnoid hemorrhage,Hypertension,Exertional dyspnea,Retrognathia,Cardiomegaly,Hemoptysis,Left ventricular dysfunction,Abnormality of the sternum,Scoliosis,Pes planus,Abdominal aortic aneurysm,Inguinal hernia,Ascending aortic dissection,Coronary artery atherosclerosis,Ischemic stroke,Bruising susceptibility,Abnormality iris morphology,Pneumothorax,Cutis marmorata,Paroxysmal dyspnea,Aortic regurgitation,Hypertelorism,Peripheral arterial stenosis,Aortic root aneurysm,Mucoid extracellular matrix accumulation,Bicuspid aortic valve,Dilatation of the cerebral artery,Prenatal maternal abnormality,High, narrow palate；
HPO相关编号:HP:0100749,HP:0012163,HP:0011106,HP:0002326,HP:0012499,HP:0000098,HP:0004959,HP:0100775,HP:0001643,HP:0001166,HP:0002138,HP:0000822,HP:0002875,HP:0000278,HP:0001640,HP:0002105,HP:0005162,HP:0000766,HP:0002650,HP:0001763,HP:0005112,HP:0000023,HP:0004933,HP:0001677,HP:0002140,HP:0000978,HP:0000525,HP:0002107,HP:0000965,HP:0012763,HP:0001659,HP:0000316,HP:0004950,HP:0002616,HP:0200146,HP:0001647,HP:0004944,HP:0002686,HP:0002705；
相关病症数据库编号：ORPHA:91387；
相关病症中文名：；
相关病症英文名：；
*遗传方式：；
* 遗传方式介绍：AD：常染色体显性遗传；AR：常染色体隐性遗传；XLD：X-连锁显性遗传；XLR：X-连锁隐性遗传；DD：双基因显性遗传；DR：双基因隐性遗传；Mi：线粒体遗传。
已知的研究表明：该种基因ACTA2往往会有以下的表型：胸痛,颈动脉瘤,血容量不足,短暂性脑缺血发作,降主动脉夹层,高身材,胸降主动脉扩张,硬脑膜扩张,动脉导管未闭,细长指(趾),蛛网膜下腔出血,高血压,劳力性呼吸困难,下颌后缩,心脏扩大,咯血,左心室功能受损,胸骨异常,脊柱侧弯,扁平足,腹主动脉扩张,腹股沟疝,升主动脉夹层,冠状动脉疾病,缺血性脑卒中,瘀斑易感性,虹膜异常,气胸,大理石样皮肤,突发性呼吸困难,主动脉瓣反流,眼距过宽,外周动脉病,主动脉根部扩张,主动脉囊性中层坏死,二叶主动脉瓣,脑动脉瘤,产前母体异常,腭高而窄。以往此类疾病多以临床表型、生化检测、神经影像学检测等手段进行诊断，程序繁琐复杂，且不能从根本的致病原因上做出明确诊断。随着人类基因组计划的完成和高通量测序技术的普遍应用，利用最先进的基因检测技术，我们已可以从基因水平对该进行致病基因ACTA2的基因检测，知道了携带的致病基因，才能加强辅助临床随诊，让医生的诊治更准确。
