学因网基因：AKT1；
与AKT1基因相关的CHPO中文疾病症状表型：脊柱后凸畸形（驼背）,甲状腺功能减退症,乳腺纤维瘤,精索静脉曲张,智力残疾,男子女性乳房发育,白内障,上颌骨发育不全,沟裂舌,甲状腺功能亢进症,皮下脂肪瘤,小下颌畸形,意向性震颤,视网膜血管样纹,听力障碍,轻度智力残疾,近视,睾丸鞘膜积液,错构瘤性息肉,癫痫发作,结肠憩室,嘴巴狭窄,甲状腺肿,卵巢囊肿,高腭,甲状腺腺瘤,常染色体显性遗传,渐进性大头畸形,成年发病,甲状腺炎,脑膜瘤,漏斗胸,皮赘,掌跖角化,心血管系统异常,膀胱移行细胞癌,脊柱侧弯,乳腺癌；
与AKT1基因相关的HPO英文疾病症状表型：Kyphosis,Hypothyroidism,Fibroadenoma of the breast,Varicocele,Intellectual disability,Gynecomastia,Cataract,Hypoplasia of the maxilla,Furrowed tongue,Hyperthyroidism,Subcutaneous lipoma,Micrognathia,Intention tremor,Angioid streaks of the fundus,Hearing impairment,Intellectual disability, mild,Myopia,Hydrocele testis,Hamartomatous polyposis,Seizures,Colonic diverticula,Narrow mouth,Goiter,Ovarian cyst,High palate,Thyroid adenoma,Autosomal dominant inheritance,Progressive macrocephaly,Adult onset,Thyroiditis,Meningioma,Pectus excavatum,Skin tags,Palmoplantar hyperkeratosis,Abnormality of the cardiovascular system,Transitional cell carcinoma of the bladder,Scoliosis,Breast carcinoma；
HPO相关编号:HP:0002808,HP:0000821,HP:0010619,HP:0012871,HP:0001249,HP:0000771,HP:0000518,HP:0000327,HP:0000221,HP:0000836,HP:0001031,HP:0000347,HP:0002080,HP:0001102,HP:0000365,HP:0001256,HP:0000545,HP:0000034,HP:0004390,HP:0001250,HP:0002253,HP:0000160,HP:0000853,HP:0000138,HP:0000218,HP:0000854,HP:0000006,HP:0004481,HP:0003581,HP:0100646,HP:0002858,HP:0000767,HP:0010609,HP:0000972,HP:0001626,HP:0006740,HP:0002650,HP:0003002；
相关病症数据库编号：OMIM:615109；
相关病症中文名：多发性错构瘤综合征6型；
相关病症英文名：COWDEN SYNDROME 6; CWS6；
*遗传方式：AD；
* 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AKT1往往会有以下的表型：脊柱后凸畸形（驼背）,甲状腺功能减退症,乳腺纤维瘤,精索静脉曲张,智力残疾,男子女性乳房发育,白内障,上颌骨发育不全,沟裂舌,甲状腺功能亢进症,皮下脂肪瘤,小下颌畸形,意向性震颤,视网膜血管样纹,听力障碍,轻度智力残疾,近视,睾丸鞘膜积液,错构瘤性息肉,癫痫发作,结肠憩室,嘴巴狭窄,甲状腺肿,卵巢囊肿,高腭,甲状腺腺瘤,常染色体显性遗传,渐进性大头畸形,成年发病,甲状腺炎,脑膜瘤,漏斗胸,皮赘,掌跖角化,心血管系统异常,膀胱移行细胞癌,脊柱侧弯,乳腺癌。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多发性错构瘤综合征6型进行致病基因AKT1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。
