学因网基因：ALPL；
与ALPL基因相关的CHPO中文疾病症状表型：下肢发育不全,贫血,尿焦磷酸增高,牙齿异常,发热,不相称的短肢矮小,肾钙质沉着症,便秘,癫痫发作,易激惹,婴儿期夭折,腿弯曲,扁平椎,短肢,长骨角顶点处的皮肤酒窝征,颅缝早闭,不能生长发育,颅骨骨化减少,串珠肋,高钙尿症,羊水过多,肌张力减退,呕吐,高钙血症,椎体未骨化,声音异常,死胎,磷酸乙醇胺尿症,厌食症,前囟及颅缝宽大,干骺端翘弯,常染色体隐性遗传,呼吸暂停,短肋,颅内出血,反复呼吸道感染,蓝巩膜,全身性肌张力减低,血浆焦磷酸盐升高,椎体裂,骨折易感性增加；
与ALPL基因相关的HPO英文疾病症状表型：Short lower limbs,Anemia,Elevated urine pyrophosphate,Abnormality of the dentition,Fever,Disproportionate short-limb short stature,Nephrocalcinosis,Constipation,Seizures,Irritability,Death in infancy,Bowing of the legs,Platyspondyly,Micromelia,Skin dimple over apex of long bone angulation,Craniosynostosis,Failure to thrive,Decreased calvarial ossification,Rachitic rosary,Hypercalciuria,Polyhydramnios,Muscular hypotonia,Vomiting,Hypercalcemia,Unossified vertebral bodies,Abnormality of the voice,Stillbirth,Phosphoethanolaminuria,Anorexia,Widely patent fontanelles and sutures,Metaphyseal cupping,Autosomal recessive inheritance,Apnea,Short ribs,Intracranial hemorrhage,Recurrent respiratory infections,Blue sclerae,Generalized hypotonia,Elevated plasma pyrophosphate,Vertebral clefting,Increased susceptibility to fractures；
HPO相关编号:HP:0006385,HP:0001903,HP:0003491,HP:0000164,HP:0001945,HP:0008873,HP:0000121,HP:0002019,HP:0001250,HP:0000737,HP:0001522,HP:0002979,HP:0000926,HP:0002983,HP:0001024,HP:0001363,HP:0001508,HP:0005474,HP:0000897,HP:0002150,HP:0001561,HP:0001252,HP:0002013,HP:0003072,HP:0004606,HP:0001608,HP:0003826,HP:0003239,HP:0002039,HP:0004492,HP:0003021,HP:0000007,HP:0002104,HP:0000773,HP:0002170,HP:0002205,HP:0000592,HP:0001290,HP:0011864,HP:0008428,HP:0002659；
相关病症数据库编号：OMIM:241500；
相关病症中文名：低磷酸酯酶症婴儿型；
相关病症英文名：HYPOPHOSPHATASIA, INFANTILE；
*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ALPL往往会有以下的表型：下肢发育不全,贫血,尿焦磷酸增高,牙齿异常,发热,不相称的短肢矮小,肾钙质沉着症,便秘,癫痫发作,易激惹,婴儿期夭折,腿弯曲,扁平椎,短肢,长骨角顶点处的皮肤酒窝征,颅缝早闭,不能生长发育,颅骨骨化减少,串珠肋,高钙尿症,羊水过多,肌张力减退,呕吐,高钙血症,椎体未骨化,声音异常,死胎,磷酸乙醇胺尿症,厌食症,前囟及颅缝宽大,干骺端翘弯,常染色体隐性遗传,呼吸暂停,短肋,颅内出血,反复呼吸道感染,蓝巩膜,全身性肌张力减低,血浆焦磷酸盐升高,椎体裂,骨折易感性增加。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低磷酸酯酶症婴儿型进行致病基因ALPL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。
