基因:CHRM3;
与CHRM3基因相关的CHPO中文疾病症状表型:室间隔缺损,肠闭锁,肠旋转不良,膀胱输尿管返流,肋骨异常,腹壁肌肉发育不全,肠扭转,泌尿生殖窦异常,漏斗胸,复发性尿路感染,便秘,动脉导管未闭,先天性髋关节脱位,肛门闭锁,法洛四联症,不能生长发育,多囊性肾发育不良,马蹄内翻足,椎体分节缺陷,肾功能不全,生育能力下降,羊水过少,肺发育缺陷/不全,反复呼吸道感染,认知障碍,子宫异常,先天性后尿道瓣膜,房间隔缺陷,睾丸体积过小,输尿管积水,隐睾,脊柱侧弯;
与CHRM3基因相关的HPO英文疾病症状表型:Ventricular septal defect,Intestinal atresia,Intestinal malrotation,Vesicoureteral reflux,Abnormality of the ribs,Aplasia of the abdominal wall musculature,Volvulus,Urogenital sinus anomaly,Pectus excavatum,Recurrent urinary tract infections,Constipation,Patent ductus arteriosus,Congenital hip dislocation,Anal atresia,Tetralogy of Fallot,Failure to thrive,Multicystic kidney dysplasia,Talipes equinovarus,Vertebral segmentation defect,Renal insufficiency,Decreased fertility,Oligohydramnios,Aplasia/Hypoplasia of the lungs,Recurrent respiratory infections,Cognitive impairment,Abnormality of the uterus,Congenital posterior urethral valve,Atrial septal defect,Decreased testicular size,Hydroureter,Cryptorchidism,Scoliosis;
HPO相关编号:HP:0001629,HP:0011100,HP:0002566,HP:0000076,HP:0000772,HP:0005199,HP:0002580,HP:0100779,HP:0000767,HP:0000010,HP:0002019,HP:0001643,HP:0001374,HP:0002023,HP:0001636,HP:0001508,HP:0000003,HP:0001762,HP:0003422,HP:0000083,HP:0000144,HP:0001562,HP:0006703,HP:0002205,HP:0100543,HP:0000130,HP:0010957,HP:0001631,HP:0008734,HP:0000072,HP:0000028,HP:0002650;
相关病症数据库编号:ORPHA:2970;
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CHRM3往往会有以下的表型:室间隔缺损,肠闭锁,肠旋转不良,膀胱输尿管返流,肋骨异常,腹壁肌肉发育不全,肠扭转,泌尿生殖窦异常,漏斗胸,复发性尿路感染,便秘,动脉导管未闭,先天性髋关节脱位,肛门闭锁,法洛四联症,不能生长发育,多囊性肾发育不良,马蹄内翻足,椎体分节缺陷,肾功能不全,生育能力下降,羊水过少,肺发育缺陷/不全,反复呼吸道感染,认知障碍,子宫异常,先天性后尿道瓣膜,房间隔缺陷,睾丸体积过小,输尿管积水,隐睾,脊柱侧弯。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CHRM3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。