学因网基因：ACTA1；
与ACTA1基因相关的CHPO中文疾病症状表型：脊柱侧弯,肺发育不良,髋关节挛缩,脊柱前凸过度,上睑下垂,吸吮无力,踝关节挛缩,扩张型心肌病,膝关节屈曲挛缩,蹒跚步态,肘屈曲挛缩,泛发性肌无力,EMG:肌病样异常,帐篷状上唇,不能生长发育,马蹄内翻足,胎动减少,智力残疾,肺活量减少,反复呼吸道感染,小下颌畸形,漏斗胸,隐睾,翼状肩胛,1型肌纤维萎缩,高腭,先天性髋关节脱位,关节松弛,肌肉无力导致的呼吸功能不全,运动延迟,肌酸磷酸激酶轻度升高,哭声微弱,手指屈曲挛缩,长脸,腱反射减低,身材矮小,肌张力减退,小腿肌肉肥大,羊水过多,眼肌麻痹,口咽部肌肉疲劳性无力；
与ACTA1基因相关的HPO英文疾病症状表型：Kyphoscoliosis,Pulmonary hypoplasia,Hip contracture,Hyperlordosis,Ptosis,Poor suck,Ankle flexion contracture,Dilated cardiomyopathy,Knee flexion contracture,Waddling gait,Elbow flexion contracture,Generalized muscle weakness,EMG: myopathic abnormalities,Tented upper lip vermilion,Failure to thrive,Talipes equinovarus,Decreased fetal movement,Intellectual disability,Reduced vital capacity,Recurrent respiratory infections,Micrognathia,Pectus excavatum,Cryptorchidism,Scapular winging,Type 1 muscle fiber atrophy,High palate,Congenital hip dislocation,Joint laxity,Respiratory insufficiency due to muscle weakness,Motor delay,Mildly elevated creatine kinase,Weak cry,Flexion contracture of finger,Long face,Reduced tendon reflexes,Short stature,Muscular hypotonia,Calf muscle hypertrophy,Polyhydramnios,Ophthalmoplegia,Fatigable weakness of bulbar muscles；
HPO相关编号:HP:0002751,HP:0002089,HP:0003273,HP:0003307,HP:0000508,HP:0002033,HP:0006466,HP:0001644,HP:0006380,HP:0002515,HP:0002987,HP:0003324,HP:0003458,HP:0010804,HP:0001508,HP:0001762,HP:0001558,HP:0001249,HP:0002792,HP:0002205,HP:0000347,HP:0000767,HP:0000028,HP:0003691,HP:0011807,HP:0000218,HP:0001374,HP:0001388,HP:0002747,HP:0001270,HP:0008180,HP:0001612,HP:0012785,HP:0000276,HP:0001315,HP:0004322,HP:0001252,HP:0008981,HP:0001561,HP:0000602,HP:0030192；
相关病症数据库编号：ORPHA:2020；
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ACTA1往往会有以下的表型：脊柱侧弯,肺发育不良,髋关节挛缩,脊柱前凸过度,上睑下垂,吸吮无力,踝关节挛缩,扩张型心肌病,膝关节屈曲挛缩,蹒跚步态,肘屈曲挛缩,泛发性肌无力,EMG:肌病样异常,帐篷状上唇,不能生长发育,马蹄内翻足,胎动减少,智力残疾,肺活量减少,反复呼吸道感染,小下颌畸形,漏斗胸,隐睾,翼状肩胛,1型肌纤维萎缩,高腭,先天性髋关节脱位,关节松弛,肌肉无力导致的呼吸功能不全,运动延迟,肌酸磷酸激酶轻度升高,哭声微弱,手指屈曲挛缩,长脸,腱反射减低,身材矮小,肌张力减退,小腿肌肉肥大,羊水过多,眼肌麻痹,口咽部肌肉疲劳性无力。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ACTA1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。
