学因网基因：ATP7A；
与ATP7A基因相关的CHPO中文疾病症状表型：髋关节发育不良,毛发粗糙,肌张力减退,髋外翻,耻骨异常,佝偻病,皮肤过度伸展,颅缝闭合延迟,浓发,裂孔疝,动脉瘤,下斜睑裂,长人中,腓骨异常,窄胸,特定的学习障碍,腹股沟疝,大髂骨翼,吸吮无力,外生骨疣,肩下斜,软骨病。,膝外翻,黄疸,瘀斑易感性,腭高而窄,髋内翻,胫骨缺如,鸡胸,智力残疾,手腕异常,髋关节脱位,骨质溶解,大囟门,食管炎,短指畸形综合征,锁骨发育不全,脊柱后凸畸形（驼背）,肱骨发育不全或发育低下,胃轻瘫,吞咽困难,关节骨性联接,胃食管反流,骨质减少,脊柱侧弯,漏斗胸,全面发育迟缓,关节过度屈曲,瘢痕疙瘩,短掌,低体温,肝炎,复发性尿路感染,骨质疏松,静脉功能不全,脑钙化,扁平足,股骨头骨骺缺血性坏死,额头高,扁平椎,肱骨内翻,嗅觉异常,膀胱憩室,股疝；
与ATP7A基因相关的HPO英文疾病症状表型：Hip dysplasia,Coarse hair,Muscular hypotonia,Coxa valga,Abnormality of the pubic bone,Rickets,Hyperextensible skin,Delayed cranial suture closure,Thick hair,Hiatus hernia,Dilatation,Downslanted palpebral fissures,Long philtrum,Abnormality of fibula morphology,Narrow chest,Specific learning disability,Inguinal hernia,Large iliac wings,Poor suck,Exostoses,Down-sloping shoulders,Osteomalacia,Genu valgum,Jaundice,Bruising susceptibility,High, narrow palate,Coxa vara,Absent tibia,Pectus carinatum,Intellectual disability,Abnormality of the wrist,Hip dislocation,Osteolysis,Large fontanelles,Esophagitis,Brachydactyly,Aplastic clavicle,Kyphosis,Aplasia/hypoplasia of the humerus,Gastroparesis,Dysphagia,Synostosis of joints,Gastroesophageal reflux,Osteopenia,Scoliosis,Pectus excavatum,Global developmental delay,Joint hyperflexibility,Keloids,Short palm,Hypothermia,Hepatitis,Recurrent urinary tract infections,Osteoporosis,Venous insufficiency,Cerebral calcification,Pes planus,Avascular necrosis of the capital femoral epiphysis,High forehead,Platyspondyly,Humerus varus,Abnormality of the sense of smell,Bladder diverticulum,Femoral hernia；
HPO相关编号:HP:0001385,HP:0002208,HP:0001252,HP:0002673,HP:0003172,HP:0002748,HP:0000974,HP:0000270,HP:0100874,HP:0002036,HP:0002617,HP:0000494,HP:0000343,HP:0002991,HP:0000774,HP:0001328,HP:0000023,HP:0008818,HP:0002033,HP:0100777,HP:0200021,HP:0002749,HP:0002857,HP:0000952,HP:0000978,HP:0002705,HP:0002812,HP:0009556,HP:0000768,HP:0001249,HP:0003019,HP:0002827,HP:0002797,HP:0000239,HP:0100633,HP:0001156,HP:0006660,HP:0002808,HP:0006507,HP:0002578,HP:0002015,HP:0100240,HP:0002020,HP:0000938,HP:0002650,HP:0000767,HP:0001263,HP:0005692,HP:0010562,HP:0004279,HP:0002045,HP:0012115,HP:0000010,HP:0000939,HP:0005293,HP:0002514,HP:0001763,HP:0005743,HP:0000348,HP:0000926,HP:0003874,HP:0004408,HP:0000015,HP:0100541；
相关病症数据库编号：ORPHA:198；
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ATP7A往往会有以下的表型：髋关节发育不良,毛发粗糙,肌张力减退,髋外翻,耻骨异常,佝偻病,皮肤过度伸展,颅缝闭合延迟,浓发,裂孔疝,动脉瘤,下斜睑裂,长人中,腓骨异常,窄胸,特定的学习障碍,腹股沟疝,大髂骨翼,吸吮无力,外生骨疣,肩下斜,软骨病。,膝外翻,黄疸,瘀斑易感性,腭高而窄,髋内翻,胫骨缺如,鸡胸,智力残疾,手腕异常,髋关节脱位,骨质溶解,大囟门,食管炎,短指畸形综合征,锁骨发育不全,脊柱后凸畸形（驼背）,肱骨发育不全或发育低下,胃轻瘫,吞咽困难,关节骨性联接,胃食管反流,骨质减少,脊柱侧弯,漏斗胸,全面发育迟缓,关节过度屈曲,瘢痕疙瘩,短掌,低体温,肝炎,复发性尿路感染,骨质疏松,静脉功能不全,脑钙化,扁平足,股骨头骨骺缺血性坏死,额头高,扁平椎,肱骨内翻,嗅觉异常,膀胱憩室,股疝。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ATP7A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。
