学因网基因：ATP7A；
与ATP7A基因相关的CHPO中文疾病症状表型：低血糖,干性皮肤,低体温,舞蹈样运动,智力残疾,自发性血肿,皮肤增厚,吸收不良,腹股沟疝,膀胱憩室,小头畸形,动脉狭窄,窄胸,发育倒退,脓毒症,脸颊丰满,漏斗胸,颅内出血,腭异常,枕骨突出,缝间骨,小下颌畸形,恶心和呕吐,颈动脉异常,痉挛,胎儿宫内发育迟缓,静脉功能不全,关节过度屈曲,骨髓炎,行为异常,皮肤过度伸展,跗骨骨性连合,非典型皮肤瘢痕,羊毛状发,腹壁肌群未发育/发育不全,骨质疏松,毛发色素减退,肌无力,动脉瘤,婴儿期喂养困难,长骨弯曲,复发性骨折,新生儿黄疸期延长,胃肠道出血,毛发稀疏,肌张力减退,癫痫发作,疲乏,脐疝,外生骨疣,软骨钙质沉着症,面具般面容,干骺端异常；
与ATP7A基因相关的HPO英文疾病症状表型：Hypoglycemia,Dry skin,Hypothermia,Chorea,Intellectual disability,Spontaneous hematomas,Thickened skin,Malabsorption,Inguinal hernia,Bladder diverticulum,Microcephaly,Arterial stenosis,Narrow chest,Developmental regression,Sepsis,Full cheeks,Pectus excavatum,Intracranial hemorrhage,Abnormal palate morphology,Prominent occiput,Wormian bones,Micrognathia,Nausea and vomiting,Abnormal carotid artery morphology,Spasticity,Intrauterine growth retardation,Venous insufficiency,Joint hyperflexibility,Osteomyelitis,Behavioral abnormality,Hyperextensible skin,Tarsal synostosis,Atypical scarring of skin,Woolly hair,Aplasia/Hypoplasia of the abdominal wall musculature,Osteoporosis,Hypopigmentation of hair,Muscle weakness,Dilatation,Feeding difficulties in infancy,Bowing of the long bones,Recurrent fractures,Prolonged neonatal jaundice,Gastrointestinal hemorrhage,Sparse hair,Muscular hypotonia,Seizures,Fatigue,Umbilical hernia,Exostoses,Chondrocalcinosis,Mask-like facies,Abnormality of the metaphysis；
HPO相关编号:HP:0001943,HP:0000958,HP:0002045,HP:0002072,HP:0001249,HP:0007420,HP:0001072,HP:0002024,HP:0000023,HP:0000015,HP:0000252,HP:0100545,HP:0000774,HP:0002376,HP:0100806,HP:0000293,HP:0000767,HP:0002170,HP:0000174,HP:0000269,HP:0002645,HP:0000347,HP:0002017,HP:0005344,HP:0001257,HP:0001511,HP:0005293,HP:0005692,HP:0002754,HP:0000708,HP:0000974,HP:0008368,HP:0000987,HP:0002224,HP:0010318,HP:0000939,HP:0005599,HP:0001324,HP:0002617,HP:0008872,HP:0006487,HP:0002757,HP:0006579,HP:0002239,HP:0008070,HP:0001252,HP:0001250,HP:0012378,HP:0001537,HP:0100777,HP:0000934,HP:0000298,HP:0000944；
相关病症数据库编号：ORPHA:565；
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：低血糖,干性皮肤,低体温,舞蹈样运动,智力残疾,自发性血肿,皮肤增厚,吸收不良,腹股沟疝,膀胱憩室,小头畸形,动脉狭窄,窄胸,发育倒退,脓毒症,脸颊丰满,漏斗胸,颅内出血,腭异常,枕骨突出,缝间骨,小下颌畸形,恶心和呕吐,颈动脉异常,痉挛,胎儿宫内发育迟缓,静脉功能不全,关节过度屈曲,骨髓炎,行为异常,皮肤过度伸展,跗骨骨性连合,非典型皮肤瘢痕,羊毛状发,腹壁肌群未发育/发育不全,骨质疏松,毛发色素减退,肌无力,动脉瘤,婴儿期喂养困难,长骨弯曲,复发性骨折,新生儿黄疸期延长,胃肠道出血,毛发稀疏,肌张力减退,癫痫发作,疲乏,脐疝,外生骨疣,软骨钙质沉着症,面具般面容,干骺端异常。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。
