基因:CDKN2C;
与CDKN2C基因相关的CHPO中文疾病症状表型:红斑,生长激素增多,皮下脂肪瘤,垂体生长激素腺瘤,类癌,食管炎,胸腺瘤,垂体无特征细胞腺瘤,甲状旁腺腺瘤,肾上腺皮质腺瘤,空腹高胰岛素血症,血管纤维瘤,胰高血糖素水平增加,肾上腺皮质癌,消化性溃疡,血皮质醇水平增加,垂体泌乳素细胞瘤,甲状旁腺增生,阵发性腹痛,胰岛素瘤,高钙血症,Zollinger-Ellison 综合征,斑驳样色素减退斑,肝外胆汁淤积,甲状旁腺功能亢进症,血甲状旁腺激素(PTH)水平升高,甲状腺腺瘤,胰高血糖素瘤,高胰岛素性低血糖,腹泻,尿皮质醇水平增高,垂体促肾上腺皮质激素腺瘤;
与CDKN2C基因相关的HPO英文疾病症状表型:Erythema,Growth hormone excess,Subcutaneous lipoma,Pituitary growth hormone cell adenoma,Carcinoid tumor,Esophagitis,Thymoma,Pituitary null cell adenoma,Parathyroid adenoma,Adrenocortical adenoma,Fasting hyperinsulinemia,Angiofibromas,Increased glucagon level,Adrenocortical carcinoma,Peptic ulcer,Increased circulating cortisol level,Pituitary prolactin cell adenoma,Parathyroid hyperplasia,Episodic abdominal pain,Insulinoma,Hypercalcemia,Zollinger-Ellison syndrome,Confetti-like hypopigmented macules,Extrahepatic cholestasis,Hyperparathyroidism,Elevated circulating parathyroid hormone level,Thyroid adenoma,Glucagonoma,Hyperinsulinemic hypoglycemia,Diarrhea,Increased urinary cortisol level,Pituitary corticotropic cell adenoma;
HPO相关编号:HP:0010783,HP:0000845,HP:0001031,HP:0011760,HP:0100570,HP:0100633,HP:0100522,HP:0011761,HP:0002897,HP:0008256,HP:0008283,HP:0010615,HP:0030688,HP:0006744,HP:0004398,HP:0003118,HP:0006767,HP:0008208,HP:0002574,HP:0012197,HP:0003072,HP:0002044,HP:0007449,HP:0012334,HP:0000843,HP:0003165,HP:0000854,HP:0030404,HP:0000825,HP:0002014,HP:0012030,HP:0008291;
相关病症数据库编号:ORPHA:652;
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CDKN2C往往会有以下的表型:红斑,生长激素增多,皮下脂肪瘤,垂体生长激素腺瘤,类癌,食管炎,胸腺瘤,垂体无特征细胞腺瘤,甲状旁腺腺瘤,肾上腺皮质腺瘤,空腹高胰岛素血症,血管纤维瘤,胰高血糖素水平增加,肾上腺皮质癌,消化性溃疡,血皮质醇水平增加,垂体泌乳素细胞瘤,甲状旁腺增生,阵发性腹痛,胰岛素瘤,高钙血症,Zollinger-Ellison 综合征,斑驳样色素减退斑,肝外胆汁淤积,甲状旁腺功能亢进症,血甲状旁腺激素(PTH)水平升高,甲状腺腺瘤,胰高血糖素瘤,高胰岛素性低血糖,腹泻,尿皮质醇水平增高,垂体促肾上腺皮质激素腺瘤。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CDKN2C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。