基因：COL5A1；
与COL5A1基因相关的CHPO中文疾病症状表型：非典型皮肤瘢痕,脸狭窄,脊柱侧弯,关节脱位,哮喘,丘疹,瘀点,脐疝,开牙合畸形,早产,细长指(趾),气胸,偏头痛,视网膜脱离,红斑,荨麻疹,高血压,青光眼,腹股沟疝,肌张力减退,恶病质,肌痛,低血压,颧骨突出,身材矮小,皮肤变薄,肾小管异常,手足发绀,三尖瓣脱垂,外阴疝,静脉功能不全,升主动脉扩张,动脉夹层,牙齿数量减少,耳软骨发育不全,牙齿错位咬合,皮肤过度伸展,腹壁肌群未发育/发育不全,脊柱后凸畸形（驼背）,肺气肿,腭高而窄,晶状体异位,湿疹,牙龈异常,小牙畸形,隐性脊柱裂,肌无力,蓝巩膜,萎缩纹,三角脸,鸡胸,舌异常,二尖瓣脱垂,内眦赘皮,近视,瘀斑易感性,房间隔缺陷,裂孔疝,意识减弱/意识错乱,脊柱前凸过度,关节过度屈曲,长胸廓,疲乏,鲨鱼皮样斑,骨关节炎,球形角膜,扁平足,认知障碍,小角膜,宽鼻梁,鼻形态异常,角膜营养不良；
与COL5A1基因相关的HPO英文疾病症状表型：Atypical scarring of skin,Narrow face,Scoliosis,Joint dislocation,Asthma,Papule,Petechiae,Umbilical hernia,Open bite,Premature birth,Arachnodactyly,Pneumothorax,Migraine,Retinal detachment,Erythema,Urticaria,Hypertension,Glaucoma,Inguinal hernia,Muscular hypotonia,Cachexia,Myalgia,Hypotension,Malar prominence,Short stature,Thin skin,Abnormal renal tubule morphology,Acrocyanosis,Tricuspid valve prolapse,Genital hernia,Venous insufficiency,Ascending tubular aorta aneurysm,Arterial dissection,Reduced number of teeth,Hypoplasia of the ear cartilage,Dental malocclusion,Hyperextensible skin,Aplasia/Hypoplasia of the abdominal wall musculature,Kyphosis,Emphysema,High, narrow palate,Ectopia lentis,Eczema,Abnormality of the gingiva,Microdontia,Spina bifida occulta,Muscle weakness,Blue sclerae,Striae distensae,Triangular face,Pectus carinatum,Abnormality of the tongue,Mitral valve prolapse,Epicanthus,Myopia,Bruising susceptibility,Atrial septal defect,Hiatus hernia,Reduced consciousness/confusion,Hyperlordosis,Joint hyperflexibility,Long thorax,Fatigue,Shagreen patch,Osteoarthritis,Keratoglobus,Pes planus,Cognitive impairment,Microcornea,Wide nasal bridge,Abnormal nasal morphology,Corneal dystrophy；
HPO相关编号:HP:0000987,HP:0000275,HP:0002650,HP:0001373,HP:0002099,HP:0200034,HP:0000967,HP:0001537,HP:0010807,HP:0001622,HP:0001166,HP:0002107,HP:0002076,HP:0000541,HP:0010783,HP:0001025,HP:0000822,HP:0000501,HP:0000023,HP:0001252,HP:0004326,HP:0003326,HP:0002615,HP:0010620,HP:0004322,HP:0000963,HP:0000091,HP:0001063,HP:0001704,HP:0100823,HP:0005293,HP:0004970,HP:0005294,HP:0009804,HP:0100720,HP:0000689,HP:0000974,HP:0010318,HP:0002808,HP:0002097,HP:0002705,HP:0001083,HP:0000964,HP:0000168,HP:0000691,HP:0003298,HP:0001324,HP:0000592,HP:0001065,HP:0000325,HP:0000768,HP:0000157,HP:0001634,HP:0000286,HP:0000545,HP:0000978,HP:0001631,HP:0002036,HP:0004372,HP:0003307,HP:0005692,HP:0100818,HP:0012378,HP:0009721,HP:0002758,HP:0001119,HP:0001763,HP:0100543,HP:0000482,HP:0000431,HP:0005105,HP:0001131；
相关病症数据库编号：ORPHA:287；
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COL5A1往往会有以下的表型：非典型皮肤瘢痕,脸狭窄,脊柱侧弯,关节脱位,哮喘,丘疹,瘀点,脐疝,开牙合畸形,早产,细长指(趾),气胸,偏头痛,视网膜脱离,红斑,荨麻疹,高血压,青光眼,腹股沟疝,肌张力减退,恶病质,肌痛,低血压,颧骨突出,身材矮小,皮肤变薄,肾小管异常,手足发绀,三尖瓣脱垂,外阴疝,静脉功能不全,升主动脉扩张,动脉夹层,牙齿数量减少,耳软骨发育不全,牙齿错位咬合,皮肤过度伸展,腹壁肌群未发育/发育不全,脊柱后凸畸形（驼背）,肺气肿,腭高而窄,晶状体异位,湿疹,牙龈异常,小牙畸形,隐性脊柱裂,肌无力,蓝巩膜,萎缩纹,三角脸,鸡胸,舌异常,二尖瓣脱垂,内眦赘皮,近视,瘀斑易感性,房间隔缺陷,裂孔疝,意识减弱/意识错乱,脊柱前凸过度,关节过度屈曲,长胸廓,疲乏,鲨鱼皮样斑,骨关节炎,球形角膜,扁平足,认知障碍,小角膜,宽鼻梁,鼻形态异常,角膜营养不良。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COL5A1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。