学因网基因：AGA；
与AGA基因相关的CHPO中文疾病症状表型：语言发育迟缓,宽脸,额窦发育不全,颅骨过厚,厚下唇,痉挛,癫痫发作,关节松弛,短头畸形,弥漫性血管角皮瘤,巨舌症,肝脏肿大,痤疮,脊柱侧弯,肌张力减退,疝,空泡性淋巴细胞,扁平椎,全身性肌张力减低,二尖瓣返流,脊柱后凸畸形（驼背）,脑萎缩,巨睾,面容粗糙,常染色体隐性遗传,智力残疾,椎体鸟喙样改变,宽嘴,病理性骨折,天冬氨酰葡萄糖胺尿症,脊椎前移,骨成熟延迟,身材矮小,白内障,反复呼吸道感染,鼻梁凹陷,代谢紊乱/稳态失衡,发育倒退,中性粒细胞减少症,腹泻,声音嘶哑,鼻孔前翻,多发性成骨不全,峡部裂,小头畸形；
与AGA基因相关的HPO英文疾病症状表型：Delayed speech and language development,Broad face,Hypoplastic frontal sinuses,Thickened calvaria,Thick lower lip vermilion,Spasticity,Seizures,Joint laxity,Brachycephaly,Angiokeratoma corporis diffusum,Macroglossia,Hepatomegaly,Acne,Scoliosis,Muscular hypotonia,Hernia,Vacuolated lymphocytes,Platyspondyly,Generalized hypotonia,Mitral regurgitation,Kyphosis,Cerebral atrophy,Macroorchidism,Coarse facial features,Autosomal recessive inheritance,Intellectual disability,Beaking of vertebral bodies,Wide mouth,Pathologic fracture,Aspartylglucosaminuria,Spondylolisthesis,Delayed skeletal maturation,Short stature,Cataract,Recurrent respiratory infections,Depressed nasal bridge,Abnormality of metabolism/homeostasis,Developmental regression,Neutropenia,Diarrhea,Hoarse voice,Anteverted nares,Dysostosis multiplex,Spondylolysis,Microcephaly；
HPO相关编号:HP:0000750,HP:0000283,HP:0002738,HP:0002684,HP:0000179,HP:0001257,HP:0001250,HP:0001388,HP:0000248,HP:0001071,HP:0000158,HP:0002240,HP:0001061,HP:0002650,HP:0001252,HP:0100790,HP:0001922,HP:0000926,HP:0001290,HP:0001653,HP:0002808,HP:0002059,HP:0000053,HP:0000280,HP:0000007,HP:0001249,HP:0004568,HP:0000154,HP:0002756,HP:0012068,HP:0003302,HP:0002750,HP:0004322,HP:0000518,HP:0002205,HP:0005280,HP:0001939,HP:0002376,HP:0001875,HP:0002014,HP:0001609,HP:0000463,HP:0000943,HP:0003304,HP:0000252；
相关病症数据库编号：OMIM:208400；
相关病症中文名：天冬氨酰葡糖胺尿症；
相关病症英文名：ASPARTYLGLUCOSAMINURIA; AGU；
*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AGA往往会有以下的表型：语言发育迟缓,宽脸,额窦发育不全,颅骨过厚,厚下唇,痉挛,癫痫发作,关节松弛,短头畸形,弥漫性血管角皮瘤,巨舌症,肝脏肿大,痤疮,脊柱侧弯,肌张力减退,疝,空泡性淋巴细胞,扁平椎,全身性肌张力减低,二尖瓣返流,脊柱后凸畸形（驼背）,脑萎缩,巨睾,面容粗糙,常染色体隐性遗传,智力残疾,椎体鸟喙样改变,宽嘴,病理性骨折,天冬氨酰葡萄糖胺尿症,脊椎前移,骨成熟延迟,身材矮小,白内障,反复呼吸道感染,鼻梁凹陷,代谢紊乱/稳态失衡,发育倒退,中性粒细胞减少症,腹泻,声音嘶哑,鼻孔前翻,多发性成骨不全,峡部裂,小头畸形。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天冬氨酰葡糖胺尿症进行致病基因AGA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。
