学因网基因：BRCA2；
与BRCA2基因相关的CHPO中文疾病症状表型：房间隔缺陷,面部不对称,吡哆醇应答型铁粒幼细胞性贫血,骨髓增生异常,虹膜发育缺陷/不全,气管食管瘘,染色体稳定性异常,输尿管积水,散光,不规则色素沉着,颈动脉异常,尺骨发育低下,无神经节性巨结肠,白细胞减少症,眼球突出,听力障碍,智力残疾,隐睾,巨脑室,睾丸发育不全,反射亢进,全面发育迟缓,鼻后孔闭锁,小下颌畸形,Meckel憩室,上睑下垂,包皮异常,肾功能不全,小头畸形,身材矮小,小手指屈指畸形,男性生育能力下降,主动脉异常,手并指,扁平足,长头畸形,白内障,胎儿宫内发育迟缓,脑积水,额头倾斜,腭裂,外耳畸形,股骨异常,前额突出,羊水过少,肝脏异常,三指节拇指,手指发育不全或发育低下,十二指肠狭窄,法洛四联症,脐疝,脊柱侧弯,杏仁状睑裂,体重减轻,眼球震颤,眼距过宽,悬雍垂发育不全／未发育,动静脉畸形,高腭,皮肤色素减退斑,脚趾并趾畸形,斜视,动脉导管未闭,脊柱裂,睑裂上斜,肾发育不良/不全,桡骨发育不全或发育低下,髋关节脱位,视觉障碍,下丘脑-垂体轴异常,尿道下裂,内眦赘皮,小眼畸形,颅神经麻痹,肾脏位置异常,短睑裂,血小板减少症,肥厚性心肌病,骨密度降低,性腺功能减退症,主动脉瓣异常,肛门闭锁,多发性咖啡斑,无精症,复发性尿路感染,杵状趾,双角子宫；
与BRCA2基因相关的HPO英文疾病症状表型：Atrial septal defect,Facial asymmetry,Pyridoxine-responsive sideroblastic anemia,Myelodysplasia,Aplasia/Hypoplasia of the iris,Tracheoesophageal fistula,Abnormality of chromosome stability,Hydroureter,Astigmatism,Irregular hyperpigmentation,Abnormal carotid artery morphology,Hypoplasia of the ulna,Aganglionic megacolon,Leukopenia,Proptosis,Hearing impairment,Intellectual disability,Cryptorchidism,Ventriculomegaly,Absent testis,Hyperreflexia,Global developmental delay,Choanal atresia,Micrognathia,Meckel diverticulum,Ptosis,Abnormality of the preputium,Renal insufficiency,Microcephaly,Short stature,Clinodactyly of the 5th finger,Decreased fertility in males,Abnormal aortic morphology,Finger syndactyly,Pes planus,Dolichocephaly,Cataract,Intrauterine growth retardation,Hydrocephalus,Sloping forehead,Cleft palate,External ear malformation,Abnormality of femur morphology,Frontal bossing,Oligohydramnios,Abnormality of the liver,Triphalangeal thumb,Aplasia/Hypoplasia of fingers,Duodenal stenosis,Tetralogy of Fallot,Umbilical hernia,Scoliosis,Almond-shaped palpebral fissure,Weight loss,Nystagmus,Hypertelorism,Aplasia/Hypoplasia of the uvula,Arteriovenous malformation,High palate,Hypopigmented skin patches,Toe syndactyly,Strabismus,Patent ductus arteriosus,Spina bifida,Upslanted palpebral fissure,Renal hypoplasia/aplasia,Aplasia/Hypoplasia of the radius,Hip dislocation,Visual impairment,Abnormality of the hypothalamus-pituitary axis,Hypospadias,Epicanthus,Microphthalmia,Cranial nerve paralysis,Abnormal localization of kidney,Short palpebral fissure,Thrombocytopenia,Hypertrophic cardiomyopathy,Reduced bone mineral density,Hypogonadism,Abnormal aortic valve morphology,Anal atresia,Multiple cafe-au-lait spots,Azoospermia,Recurrent urinary tract infections,Clubbing of toes,Bicornuate uterus；
HPO相关编号:HP:0001631,HP:0000324,HP:0005522,HP:0002863,HP:0008053,HP:0002575,HP:0003220,HP:0000072,HP:0000483,HP:0007400,HP:0005344,HP:0003022,HP:0002251,HP:0001882,HP:0000520,HP:0000365,HP:0001249,HP:0000028,HP:0002119,HP:0010469,HP:0001347,HP:0001263,HP:0000453,HP:0000347,HP:0002245,HP:0000508,HP:0100587,HP:0000083,HP:0000252,HP:0004322,HP:0004209,HP:0012041,HP:0001679,HP:0006101,HP:0001763,HP:0000268,HP:0000518,HP:0001511,HP:0000238,HP:0000340,HP:0000175,HP:0008572,HP:0002823,HP:0002007,HP:0001562,HP:0001392,HP:0001199,HP:0006265,HP:0100867,HP:0001636,HP:0001537,HP:0002650,HP:0007874,HP:0001824,HP:0000639,HP:0000316,HP:0010293,HP:0100026,HP:0000218,HP:0001053,HP:0001770,HP:0000486,HP:0001643,HP:0002414,HP:0000582,HP:0008678,HP:0006501,HP:0002827,HP:0000505,HP:0000864,HP:0000047,HP:0000286,HP:0000568,HP:0006824,HP:0100542,HP:0012745,HP:0001873,HP:0001639,HP:0004349,HP:0000135,HP:0001646,HP:0002023,HP:0007565,HP:0000027,HP:0000010,HP:0100760,HP:0000813；
相关病症数据库编号：ORPHA:84；
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BRCA2往往会有以下的表型：房间隔缺陷,面部不对称,吡哆醇应答型铁粒幼细胞性贫血,骨髓增生异常,虹膜发育缺陷/不全,气管食管瘘,染色体稳定性异常,输尿管积水,散光,不规则色素沉着,颈动脉异常,尺骨发育低下,无神经节性巨结肠,白细胞减少症,眼球突出,听力障碍,智力残疾,隐睾,巨脑室,睾丸发育不全,反射亢进,全面发育迟缓,鼻后孔闭锁,小下颌畸形,Meckel憩室,上睑下垂,包皮异常,肾功能不全,小头畸形,身材矮小,小手指屈指畸形,男性生育能力下降,主动脉异常,手并指,扁平足,长头畸形,白内障,胎儿宫内发育迟缓,脑积水,额头倾斜,腭裂,外耳畸形,股骨异常,前额突出,羊水过少,肝脏异常,三指节拇指,手指发育不全或发育低下,十二指肠狭窄,法洛四联症,脐疝,脊柱侧弯,杏仁状睑裂,体重减轻,眼球震颤,眼距过宽,悬雍垂发育不全／未发育,动静脉畸形,高腭,皮肤色素减退斑,脚趾并趾畸形,斜视,动脉导管未闭,脊柱裂,睑裂上斜,肾发育不良/不全,桡骨发育不全或发育低下,髋关节脱位,视觉障碍,下丘脑-垂体轴异常,尿道下裂,内眦赘皮,小眼畸形,颅神经麻痹,肾脏位置异常,短睑裂,血小板减少症,肥厚性心肌病,骨密度降低,性腺功能减退症,主动脉瓣异常,肛门闭锁,多发性咖啡斑,无精症,复发性尿路感染,杵状趾,双角子宫。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BRCA2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。
