学因网基因：ERCC8；
与ERCC8基因相关的CHPO中文疾病症状表型：正常压力性脑积水,角膜基质的混浊,感音神经性耳聋,非典型皮肤瘢痕,皮下脂肪组织减少,视觉诱发电位异常,肌无力,牙齿发育不全,常染色体隐性遗传,乳牙萌出延迟,肝脏肿大,皮层下白质片状脱髓鞘,心律失常,多发性神经病,小头畸形,流泪减少,眼球震颤,斜视,早衰面容,脑萎缩,构音障碍,颅骨过厚,龋齿,隐睾,色素性视网膜病,对紫外光的细胞敏感度增强,智力残疾,蛋白尿,面部脂肪组织丢失,椒盐状视网膜病变,共济失调,高血压,神经传导速度降低,小阴茎,鼻子细长,脾肿大,耳廓异常,月经不调症,视神经萎缩,性腺功能减退症,步态不稳,髂骨翼发育不全,毛发稀疏,认知障碍,骨盆发育不良,关节活动受限,方形骨盆,下颌前突,胸腺激素减少,干性毛发,皮肤着色异常,外周髓鞘形成障碍,异质性的,指骨乳白色骨骺,远视,肾功能不全,无汗症,胎儿宫内发育迟缓,听觉诱发电位异常,震颤,干性皮肤,牙齿错位咬合,脊柱后凸畸形（驼背）,白内障,光感性皮肤,癫痫发作,严重的产后生长发育迟缓,基底节钙化；
与ERCC8基因相关的HPO英文疾病症状表型：Normal pressure hydrocephalus,Opacification of the corneal stroma,Sensorineural hearing impairment,Atypical scarring of skin,Reduced subcutaneous adipose tissue,Abnormality of visual evoked potentials,Muscle weakness,Hypoplasia of teeth,Autosomal recessive inheritance,Delayed eruption of primary teeth,Hepatomegaly,Patchy demyelination of subcortical white matter,Arrhythmia,Polyneuropathy,Microcephaly,Decreased lacrimation,Nystagmus,Strabismus,Progeroid facial appearance,Cerebral atrophy,Dysarthria,Thickened calvaria,Carious teeth,Cryptorchidism,Pigmentary retinopathy,Increased cellular sensitivity to UV light,Intellectual disability,Proteinuria,Loss of facial adipose tissue,Retinal pigment epithelial mottling,Ataxia,Hypertension,Decreased nerve conduction velocity,Micropenis,Slender nose,Splenomegaly,Abnormality of the pinna,Menstrual irregularities,Optic atrophy,Hypogonadism,Gait disturbance,Hypoplastic iliac wing,Sparse hair,Dementia,Hypoplastic pelvis,Limitation of joint mobility,Square pelvis bone,Mandibular prognathia,Thymic hormone decreased,Dry hair,Abnormality of skin pigmentation,Peripheral dysmyelination,Heterogeneous,Ivory epiphyses of the phalanges of the hand,Hypermetropia,Renal insufficiency,Anhidrosis,Intrauterine growth retardation,Abnormal auditory evoked potentials,Tremor,Dry skin,Dental malocclusion,Kyphosis,Cataract,Cutaneous photosensitivity,Seizures,Severe postnatal growth retardation,Basal ganglia calcification；
HPO相关编号:HP:0002343,HP:0007759,HP:0000407,HP:0000987,HP:0003758,HP:0000649,HP:0001324,HP:0000685,HP:0000007,HP:0000680,HP:0002240,HP:0002545,HP:0011675,HP:0001271,HP:0000252,HP:0000633,HP:0000639,HP:0000486,HP:0005328,HP:0002059,HP:0001260,HP:0002684,HP:0000670,HP:0000028,HP:0000580,HP:0003224,HP:0001249,HP:0000093,HP:0000292,HP:0007814,HP:0001251,HP:0000822,HP:0000762,HP:0000054,HP:0000417,HP:0001744,HP:0000377,HP:0000858,HP:0000648,HP:0000135,HP:0001288,HP:0002866,HP:0008070,HP:0000726,HP:0008839,HP:0001376,HP:0003278,HP:0000303,HP:0003357,HP:0011359,HP:0001000,HP:0003469,HP:0001425,HP:0010234,HP:0000540,HP:0000083,HP:0000970,HP:0001511,HP:0006958,HP:0001337,HP:0000958,HP:0000689,HP:0002808,HP:0000518,HP:0000992,HP:0001250,HP:0008850,HP:0002135；
相关病症数据库编号：OMIM:216400；
相关病症中文名：Cockayne综合征A型；
相关病症英文名：COCKAYNE SYNDROME A; CSA；
*遗传方式：AR；
* 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ERCC8往往会有以下的表型：正常压力性脑积水,角膜基质的混浊,感音神经性耳聋,非典型皮肤瘢痕,皮下脂肪组织减少,视觉诱发电位异常,肌无力,牙齿发育不全,常染色体隐性遗传,乳牙萌出延迟,肝脏肿大,皮层下白质片状脱髓鞘,心律失常,多发性神经病,小头畸形,流泪减少,眼球震颤,斜视,早衰面容,脑萎缩,构音障碍,颅骨过厚,龋齿,隐睾,色素性视网膜病,对紫外光的细胞敏感度增强,智力残疾,蛋白尿,面部脂肪组织丢失,椒盐状视网膜病变,共济失调,高血压,神经传导速度降低,小阴茎,鼻子细长,脾肿大,耳廓异常,月经不调症,视神经萎缩,性腺功能减退症,步态不稳,髂骨翼发育不全,毛发稀疏,认知障碍,骨盆发育不良,关节活动受限,方形骨盆,下颌前突,胸腺激素减少,干性毛发,皮肤着色异常,外周髓鞘形成障碍,异质性的,指骨乳白色骨骺,远视,肾功能不全,无汗症,胎儿宫内发育迟缓,听觉诱发电位异常,震颤,干性皮肤,牙齿错位咬合,脊柱后凸畸形（驼背）,白内障,光感性皮肤,癫痫发作,严重的产后生长发育迟缓,基底节钙化。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Cockayne综合征A型进行致病基因ERCC8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。
