学因网基因：ANK1；
与ANK1基因相关的CHPO中文疾病症状表型：动脉导管未闭,下丘脑-垂体轴异常,骶骨酒窝,智力残疾,喂养困难,嗅觉丧失,身材矮小,眼睑裂狭小,马蹄内翻足,溶血性贫血,外耳畸形,阴茎发育不良,房间隔缺陷,睑裂上斜,癫痫发作,内眦赘皮,高腭,全面发育迟缓,低促性腺激素性性腺功能减退症,视网膜营养不良,耳前凹陷,鼻梁凹陷,小角膜,虹膜缺损,隐睾,小头畸形,脾肿大,多余肋,球形红细胞增多症,眼距过宽,小下颌畸形,无精症,眼球震颤,二尖瓣脱垂；
与ANK1基因相关的HPO英文疾病症状表型：Patent ductus arteriosus,Abnormality of the hypothalamus-pituitary axis,Sacral dimple,Intellectual disability,Feeding difficulties,Anosmia,Short stature,Blepharophimosis,Talipes equinovarus,Hemolytic anemia,External ear malformation,Hypoplasia of penis,Atrial septal defect,Upslanted palpebral fissure,Seizures,Epicanthus,High palate,Global developmental delay,Hypogonadotrophic hypogonadism,Retinal dystrophy,Preauricular pit,Depressed nasal bridge,Microcornea,Iris coloboma,Cryptorchidism,Microcephaly,Splenomegaly,Supernumerary ribs,Spherocytosis,Hypertelorism,Micrognathia,Azoospermia,Nystagmus,Mitral valve prolapse；
HPO相关编号:HP:0001643,HP:0000864,HP:0000960,HP:0001249,HP:0011968,HP:0000458,HP:0004322,HP:0000581,HP:0001762,HP:0001878,HP:0008572,HP:0008736,HP:0001631,HP:0000582,HP:0001250,HP:0000286,HP:0000218,HP:0001263,HP:0000044,HP:0000556,HP:0004467,HP:0005280,HP:0000482,HP:0000612,HP:0000028,HP:0000252,HP:0001744,HP:0005815,HP:0004444,HP:0000316,HP:0000347,HP:0000027,HP:0000639,HP:0001634；
相关病症数据库编号：ORPHA:251066；
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ANK1往往会有以下的表型：动脉导管未闭,下丘脑-垂体轴异常,骶骨酒窝,智力残疾,喂养困难,嗅觉丧失,身材矮小,眼睑裂狭小,马蹄内翻足,溶血性贫血,外耳畸形,阴茎发育不良,房间隔缺陷,睑裂上斜,癫痫发作,内眦赘皮,高腭,全面发育迟缓,低促性腺激素性性腺功能减退症,视网膜营养不良,耳前凹陷,鼻梁凹陷,小角膜,虹膜缺损,隐睾,小头畸形,脾肿大,多余肋,球形红细胞增多症,眼距过宽,小下颌畸形,无精症,眼球震颤,二尖瓣脱垂。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ANK1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。
