基因:C4A;
与C4A基因相关的CHPO中文疾病症状表型:体重减轻,免疫过敏,脑膜炎,肾小球病,颅神经麻痹,静脉血栓形成,疲乏,共济失调,胰腺炎,恶心和呕吐,癫痫发作,肌痛,胸膜炎,脑炎,关节炎,胸腔积液,关节疼痛,锥体功能障碍,意识模糊,肺浸润,肺栓塞,记忆障碍,睾丸炎,肌炎,无菌性骨坏死,胃肠道出血,心肌梗死,干燥性角结膜炎,心肌异常,易激惹,二尖瓣返流,发热,咯血,反射亢进,视网膜病变,淋巴结肿大,口腔溃疡,复发性阿弗他口腔溃疡,心内膜炎,失明,皮肤的异常起疱,血管炎,脾肿大,皮下结节,畏光,肾功能不全,心包炎,发育倒退,动脉血栓形成,偏头痛,感觉异常,白内障,脑缺血,轻偏瘫,厌食症,颅内压增高,腹痛,球后视神经炎,坏疽,吸收不良,眩晕,步态不稳,丘疹,主动脉瓣反流,痤疮;
与C4A基因相关的HPO英文疾病症状表型:Weight loss,Immunologic hypersensitivity,Meningitis,Glomerulopathy,Cranial nerve paralysis,Venous thrombosis,Fatigue,Ataxia,Pancreatitis,Nausea and vomiting,Seizures,Myalgia,Pleuritis,Encephalitis,Arthritis,Pleural effusion,Arthralgia,Abnormal pyramidal sign,Confusion,Pulmonary infiltrates,Pulmonary embolism,Memory impairment,Orchitis,Myositis,Avascular necrosis,Gastrointestinal hemorrhage,Myocardial infarction,Keratoconjunctivitis sicca,Abnormal myocardium morphology,Irritability,Mitral regurgitation,Fever,Hemoptysis,Hyperreflexia,Retinopathy,Lymphadenopathy,Oral ulcer,Recurrent aphthous stomatitis,Endocarditis,Blindness,Abnormal blistering of the skin,Vasculitis,Splenomegaly,Subcutaneous nodule,Photophobia,Renal insufficiency,Pericarditis,Developmental regression,Arterial thrombosis,Migraine,Paresthesia,Cataract,Cerebral ischemia,Hemiparesis,Anorexia,Increased intracranial pressure,Abdominal pain,Retrobulbar optic neuritis,Gangrene,Malabsorption,Vertigo,Gait disturbance,Papule,Aortic regurgitation,Acne;
HPO相关编号:HP:0001824,HP:0100326,HP:0001287,HP:0100820,HP:0006824,HP:0004936,HP:0012378,HP:0001251,HP:0001733,HP:0002017,HP:0001250,HP:0003326,HP:0002102,HP:0002383,HP:0001369,HP:0002202,HP:0002829,HP:0007256,HP:0001289,HP:0002113,HP:0002204,HP:0002354,HP:0100796,HP:0100614,HP:0010885,HP:0002239,HP:0001658,HP:0001097,HP:0001637,HP:0000737,HP:0001653,HP:0001945,HP:0002105,HP:0001347,HP:0000488,HP:0002716,HP:0000155,HP:0011107,HP:0100584,HP:0000618,HP:0008066,HP:0002633,HP:0001744,HP:0001482,HP:0000613,HP:0000083,HP:0001701,HP:0002376,HP:0004420,HP:0002076,HP:0003401,HP:0000518,HP:0002637,HP:0001269,HP:0002039,HP:0002516,HP:0002027,HP:0100654,HP:0100758,HP:0002024,HP:0002321,HP:0001288,HP:0200034,HP:0001659,HP:0001061;
相关病症数据库编号:ORPHA:117;
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C4A往往会有以下的表型:体重减轻,免疫过敏,脑膜炎,肾小球病,颅神经麻痹,静脉血栓形成,疲乏,共济失调,胰腺炎,恶心和呕吐,癫痫发作,肌痛,胸膜炎,脑炎,关节炎,胸腔积液,关节疼痛,锥体功能障碍,意识模糊,肺浸润,肺栓塞,记忆障碍,睾丸炎,肌炎,无菌性骨坏死,胃肠道出血,心肌梗死,干燥性角结膜炎,心肌异常,易激惹,二尖瓣返流,发热,咯血,反射亢进,视网膜病变,淋巴结肿大,口腔溃疡,复发性阿弗他口腔溃疡,心内膜炎,失明,皮肤的异常起疱,血管炎,脾肿大,皮下结节,畏光,肾功能不全,心包炎,发育倒退,动脉血栓形成,偏头痛,感觉异常,白内障,脑缺血,轻偏瘫,厌食症,颅内压增高,腹痛,球后视神经炎,坏疽,吸收不良,眩晕,步态不稳,丘疹,主动脉瓣反流,痤疮。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C4A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。