学因网基因：AKT1；
与AKT1基因相关的CHPO中文疾病症状表型：动脉血栓形成,上睑下垂,肌肉容积减少,皮下结节,外生骨疣,指（趾）甲异常,胸廓不对称,关节僵硬,巨睾,淋巴管瘤,脂肪瘤,不成比例的高身材,表皮痣,内脏血管瘤病,异位,近视,手腕异常,椎体形态异常,肌原纤维肌病,虹膜异色,龋齿,肺部肿瘤,脉络膜视网膜缺损,支气管囊肿,全身性多毛症,肺分叶异常,颅骨骨质增生,皮肤血管异常,毛细血管瘤,动静脉畸形,视网膜无附着,牙齿数量减少,睾丸肿瘤,巨耳畸形,掌骨异常,先天性开角型青光眼,肺栓塞,胸腺瘤,泛发性角化过度,眼球突出,下斜睑裂,增大的多囊卵巢,黑素细胞痣,上肢不对称,脊柱侧弯,阴茎增大,跖骨外翻,尿崩症,反复感染,卵巢肿瘤,眼距过宽,美人鱼综合症（并腿畸形）,胸腺增生,牙釉质异常,低位耳,长头畸形,泛发性色素沉着,内听道狭窄,淋巴水肿,拇趾外翻,癫痫发作,鼻梁凹陷,长脸,小手指屈指畸形,智力残疾,手并指,面部不对称,脑膜瘤,颅缝早闭,皮下脂肪组织分布异常,颈部异常,不规则色素沉着,心源性猝死,斜视,鼻翼增厚,视网膜错构瘤,髋关节脱位,骨骼发育不良,血栓性静脉炎,脾肿大,肾囊肿,鼻孔前翻,恶病质,多发性咖啡斑,白内障,下肢不对称,巨指,脊柱后凸畸形（驼背）,圆脸,视网膜色素沉着异常,巨头畸形；
与AKT1基因相关的HPO英文疾病症状表型：Arterial thrombosis,Ptosis,Decreased muscle mass,Subcutaneous nodule,Exostoses,Abnormality of the nail,Asymmetry of the thorax,Joint stiffness,Macroorchidism,Lymphangioma,Lipoma,Disproportionate tall stature,Epidermal nevus,Visceral angiomatosis,Gray matter heterotopia,Myopia,Abnormality of the wrist,Abnormal form of the vertebral bodies,Myofibrillar myopathy,Central heterochromia,Carious teeth,Neoplasm of the lung,Chorioretinal coloboma,Bronchogenic cyst,Generalized hirsutism,Abnormal lung lobation,Calvarial hyperostosis,Vascular skin abnormality,Capillary hemangioma,Arteriovenous malformation,Retinal nonattachment,Reduced number of teeth,Testicular neoplasm,Macrotia,Abnormality of the metacarpal bones,Buphthalmos,Pulmonary embolism,Neoplasm of the thymus,Generalized hyperkeratosis,Proptosis,Downslanted palpebral fissures,Enlarged polycystic ovaries,Melanocytic nevus,Upper limb asymmetry,Scoliosis,Long penis,Metatarsus valgus,Diabetes insipidus,Recurrent infections,Ovarian neoplasm,Hypertelorism,Sirenomelia,Thymus hyperplasia,Abnormality of dental enamel,Low-set ears,Dolichocephaly,Generalized hyperpigmentation,Narrow internal auditory canal,Lymphedema,Hallux valgus,Seizures,Depressed nasal bridge,Long face,Clinodactyly of the 5th finger,Intellectual disability,Finger syndactyly,Facial asymmetry,Meningioma,Craniosynostosis,Abnormal subcutaneous fat tissue distribution,Abnormality of the neck,Irregular hyperpigmentation,Sudden cardiac death,Strabismus,Thick nasal alae,Retinal hamartoma,Hip dislocation,Skeletal dysplasia,Thrombophlebitis,Splenomegaly,Renal cyst,Anteverted nares,Cachexia,Multiple cafe-au-lait spots,Cataract,Lower limb asymmetry,Macrodactyly,Kyphosis,Round face,Abnormality of retinal pigmentation,Macrocephaly；
HPO相关编号:HP:0004420,HP:0000508,HP:0003199,HP:0001482,HP:0100777,HP:0001597,HP:0001555,HP:0001387,HP:0000053,HP:0100764,HP:0012032,HP:0001519,HP:0010816,HP:0100761,HP:0002282,HP:0000545,HP:0003019,HP:0003312,HP:0003715,HP:0007818,HP:0000670,HP:0100526,HP:0000567,HP:0100730,HP:0002230,HP:0002101,HP:0004490,HP:0011276,HP:0005306,HP:0100026,HP:0007899,HP:0009804,HP:0010788,HP:0000400,HP:0001163,HP:0000557,HP:0002204,HP:0100521,HP:0005595,HP:0000520,HP:0000494,HP:0008675,HP:0000995,HP:0100560,HP:0002650,HP:0000040,HP:0010508,HP:0000873,HP:0002719,HP:0100615,HP:0000316,HP:0010497,HP:0010516,HP:0000682,HP:0000369,HP:0000268,HP:0007440,HP:0011386,HP:0001004,HP:0001822,HP:0001250,HP:0005280,HP:0000276,HP:0004209,HP:0001249,HP:0006101,HP:0000324,HP:0002858,HP:0001363,HP:0007552,HP:0000464,HP:0007400,HP:0001645,HP:0000486,HP:0009928,HP:0009594,HP:0002827,HP:0002652,HP:0004418,HP:0001744,HP:0000107,HP:0000463,HP:0004326,HP:0007565,HP:0000518,HP:0100559,HP:0004099,HP:0002808,HP:0000311,HP:0007703,HP:0000256；
相关病症数据库编号：ORPHA:744；
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AKT1往往会有以下的表型：动脉血栓形成,上睑下垂,肌肉容积减少,皮下结节,外生骨疣,指（趾）甲异常,胸廓不对称,关节僵硬,巨睾,淋巴管瘤,脂肪瘤,不成比例的高身材,表皮痣,内脏血管瘤病,异位,近视,手腕异常,椎体形态异常,肌原纤维肌病,虹膜异色,龋齿,肺部肿瘤,脉络膜视网膜缺损,支气管囊肿,全身性多毛症,肺分叶异常,颅骨骨质增生,皮肤血管异常,毛细血管瘤,动静脉畸形,视网膜无附着,牙齿数量减少,睾丸肿瘤,巨耳畸形,掌骨异常,先天性开角型青光眼,肺栓塞,胸腺瘤,泛发性角化过度,眼球突出,下斜睑裂,增大的多囊卵巢,黑素细胞痣,上肢不对称,脊柱侧弯,阴茎增大,跖骨外翻,尿崩症,反复感染,卵巢肿瘤,眼距过宽,美人鱼综合症（并腿畸形）,胸腺增生,牙釉质异常,低位耳,长头畸形,泛发性色素沉着,内听道狭窄,淋巴水肿,拇趾外翻,癫痫发作,鼻梁凹陷,长脸,小手指屈指畸形,智力残疾,手并指,面部不对称,脑膜瘤,颅缝早闭,皮下脂肪组织分布异常,颈部异常,不规则色素沉着,心源性猝死,斜视,鼻翼增厚,视网膜错构瘤,髋关节脱位,骨骼发育不良,血栓性静脉炎,脾肿大,肾囊肿,鼻孔前翻,恶病质,多发性咖啡斑,白内障,下肢不对称,巨指,脊柱后凸畸形（驼背）,圆脸,视网膜色素沉着异常,巨头畸形。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。
