学因网基因：ABCC6；
与ABCC6基因相关的CHPO中文疾病症状表型：视网膜血管样纹,偏瘫/轻偏瘫,近视,关节过度屈曲,动脉瘤,瘀斑易感性,胸廓异常,视物变形,高腭,心绞痛,限制性心肌病,血小板异常,脑钙化,胃肠道出血,心源性猝死,心内膜异常,多发性脂肪瘤,视网膜病变,肾钙质沉着症,脊柱侧弯,动脉狭窄,瘙痒,痤疮,二尖瓣脱垂,萎缩纹,视觉障碍,动脉粥样硬化,皮肤过度伸展,颈部皮肤皱褶冗赘,蓝巩膜,皮疹,甲状腺功能减退症,姿势不稳,高血压,脑血管系统异常,皮下结节,皮肤皱褶过多,视网膜出血,皮肤毛细血管扩张；
与ABCC6基因相关的HPO英文疾病症状表型：Angioid streaks of the fundus,Hemiplegia/hemiparesis,Myopia,Joint hyperflexibility,Dilatation,Bruising susceptibility,Abnormality of the thorax,Metamorphopsia,High palate,Angina pectoris,Restrictive cardiomyopathy,Abnormal thrombocyte morphology,Cerebral calcification,Gastrointestinal hemorrhage,Sudden cardiac death,Abnormal endocardium morphology,Multiple lipomas,Retinopathy,Nephrocalcinosis,Scoliosis,Arterial stenosis,Pruritus,Acne,Mitral valve prolapse,Striae distensae,Visual impairment,Atherosclerosis,Hyperextensible skin,Thickened nuchal skin fold,Blue sclerae,Skin rash,Hypothyroidism,Postural instability,Hypertension,Abnormality of the cerebral vasculature,Subcutaneous nodule,Excessive wrinkled skin,Retinal hemorrhage,Telangiectasia of the skin；
HPO相关编号:HP:0001102,HP:0004374,HP:0000545,HP:0005692,HP:0002617,HP:0000978,HP:0000765,HP:0012508,HP:0000218,HP:0001681,HP:0001723,HP:0001872,HP:0002514,HP:0002239,HP:0001645,HP:0004306,HP:0001012,HP:0000488,HP:0000121,HP:0002650,HP:0100545,HP:0000989,HP:0001061,HP:0001634,HP:0001065,HP:0000505,HP:0002621,HP:0000974,HP:0000474,HP:0000592,HP:0000988,HP:0000821,HP:0002172,HP:0000822,HP:0100659,HP:0001482,HP:0007392,HP:0000573,HP:0100585；
相关病症数据库编号：ORPHA:758；
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ABCC6往往会有以下的表型：视网膜血管样纹,偏瘫/轻偏瘫,近视,关节过度屈曲,动脉瘤,瘀斑易感性,胸廓异常,视物变形,高腭,心绞痛,限制性心肌病,血小板异常,脑钙化,胃肠道出血,心源性猝死,心内膜异常,多发性脂肪瘤,视网膜病变,肾钙质沉着症,脊柱侧弯,动脉狭窄,瘙痒,痤疮,二尖瓣脱垂,萎缩纹,视觉障碍,动脉粥样硬化,皮肤过度伸展,颈部皮肤皱褶冗赘,蓝巩膜,皮疹,甲状腺功能减退症,姿势不稳,高血压,脑血管系统异常,皮下结节,皮肤皱褶过多,视网膜出血,皮肤毛细血管扩张。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ABCC6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。
