学因网基因：JAG1；
与JAG1基因相关的CHPO中文疾病症状表型：肝内胆管数量减少,斜视,胰腺外分泌功能不全,新生儿黄疸期延长,肝硬化,色素性视网膜病,肋骨异常,肾动脉狭窄,特定的学习障碍,轻度智力残疾,膀胱输尿管返流,眼睛深陷,法洛四联症,卒中,尺骨发育低下,三角脸,巨耳畸形,近视,肾发育不良,长鼻,肝功能衰竭,眼距过宽,主动脉缩窄,肾发育不良,脉络膜视网膜萎缩,带状角膜病,白内障,蝴蝶椎弓,前房异常,后胚胎环,高甘油三酯血症,慢性肾病5期,不能生长发育,婴儿期发病,半椎体,宽前额,Axenfeld 综合征,睑裂上斜,集合管系统重复,神经反射消失,小角膜,周围肺动脉狭窄,高胆固醇血症,局灶节段性肾小球硬化,手指短末节指骨,鼻梁凹陷,室间隔缺损,肝细胞癌,肝脏转氨酶升高,房间隔缺陷,常染色体显性遗传,胆汁淤积,'甲状腺乳头状癌,多发性肾髓质小囊肿,肾小管性酸中毒,外显不全；
与JAG1基因相关的HPO英文疾病症状表型：Reduced number of intrahepatic bile ducts,Strabismus,Exocrine pancreatic insufficiency,Prolonged neonatal jaundice,Cirrhosis,Pigmentary retinopathy,Abnormality of the ribs,Renal artery stenosis,Specific learning disability,Intellectual disability, mild,Vesicoureteral reflux,Deeply set eye,Tetralogy of Fallot,Stroke,Hypoplasia of the ulna,Triangular face,Macrotia,Myopia,Renal hypoplasia,Long nose,Hepatic failure,Hypertelorism,Coarctation of aorta,Renal dysplasia,Chorioretinal atrophy,Band keratopathy,Cataract,Butterfly vertebral arch,Abnormal anterior chamber morphology,Posterior embryotoxon,Hypertriglyceridemia,Stage 5 chronic kidney disease,Failure to thrive,Infantile onset,Hemivertebrae,Broad forehead,Axenfeld anomaly,Upslanted palpebral fissure,Duplicated collecting system,Areflexia,Microcornea,Peripheral pulmonary artery stenosis,Hypercholesterolemia,Focal segmental glomerulosclerosis,Short distal phalanx of finger,Depressed nasal bridge,Ventricular septal defect,Hepatocellular carcinoma,Elevated hepatic transaminase,Atrial septal defect,Autosomal dominant inheritance,Cholestasis,Papillary thyroid carcinoma,Multiple small medullary renal cysts,Renal tubular acidosis,Incomplete penetrance；
HPO相关编号:HP:0006571,HP:0000486,HP:0001738,HP:0006579,HP:0001394,HP:0000580,HP:0000772,HP:0001920,HP:0001328,HP:0001256,HP:0000076,HP:0000490,HP:0001636,HP:0001297,HP:0003022,HP:0000325,HP:0000400,HP:0000545,HP:0000089,HP:0003189,HP:0001399,HP:0000316,HP:0001680,HP:0000110,HP:0000533,HP:0000585,HP:0000518,HP:0004617,HP:0000593,HP:0000627,HP:0002155,HP:0003774,HP:0001508,HP:0003593,HP:0002937,HP:0000337,HP:0001492,HP:0000582,HP:0000081,HP:0001284,HP:0000482,HP:0004969,HP:0003124,HP:0000097,HP:0009882,HP:0005280,HP:0001629,HP:0001402,HP:0002910,HP:0001631,HP:0000006,HP:0001396,HP:0002895,HP:0008659,HP:0001947,HP:0003829；
相关病症数据库编号：OMIM:118450；
相关病症中文名：ALAGILLE综合征1型；
相关病症英文名：ALAGILLE SYNDROME 1; ALGS1；
*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JAG1往往会有以下的表型：肝内胆管数量减少,斜视,胰腺外分泌功能不全,新生儿黄疸期延长,肝硬化,色素性视网膜病,肋骨异常,肾动脉狭窄,特定的学习障碍,轻度智力残疾,膀胱输尿管返流,眼睛深陷,法洛四联症,卒中,尺骨发育低下,三角脸,巨耳畸形,近视,肾发育不良,长鼻,肝功能衰竭,眼距过宽,主动脉缩窄,肾发育不良,脉络膜视网膜萎缩,带状角膜病,白内障,蝴蝶椎弓,前房异常,后胚胎环,高甘油三酯血症,慢性肾病5期,不能生长发育,婴儿期发病,半椎体,宽前额,Axenfeld 综合征,睑裂上斜,集合管系统重复,神经反射消失,小角膜,周围肺动脉狭窄,高胆固醇血症,局灶节段性肾小球硬化,手指短末节指骨,鼻梁凹陷,室间隔缺损,肝细胞癌,肝脏转氨酶升高,房间隔缺陷,常染色体显性遗传,胆汁淤积,'甲状腺乳头状癌,多发性肾髓质小囊肿,肾小管性酸中毒,外显不全。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ALAGILLE综合征1型进行致病基因JAG1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。
