Congenital Disorder of Glycosylation, Type Ic (CDG1C)

Alias:

Cdg1c

Carbohydrate-Deficient Glycoprotein Syndrome Type V

Congenital Disorder of Glycosylation Type Ic

Congenital Disorder of Glycosylation Type 1c

Congenital Disorder of Glycosylation Ic

Congenital Disorder of Glycosylation 1c

Glucosyltransferase 1 Deficiency

Cdg Syndrome Type Ic

Cdgic

Carbohydrate-Deficient Glycoprotein Syndrome, Type I, with Deficient Glycosylation of Dolichol-Linked Oligosaccharide, Formerly

Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly

Carbohydrate-Deficient Glycoprotein Syndrome Type Ic

Carbohydrate Deficient Glycoprotein Syndrome Type Ic

Glycosylation, Congenital Disorder of, Type Ic

Alg6-Congenital Disorder of Glycosylation 1c

Alg6-Congenital Disorder of Glycosylation

Cdg Syndrome Type 1c

Cdgs5, Formerly

Alg6-Cdg

Cdg Ic

Cdg-Ic

Cdgs5

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

先天性糖基化障碍，类型Ic，也称为cdg1c，与先天性糖基化障碍，类型I和蛋白质丢失性肠病有关，症状包括共济失调和癫痫发作。与先天性糖基化障碍，类型Ic有关的重要基因是ALG6（ALG6 Alpha-1,3-葡萄糖基转移酶），其相关通路/超级通路包括运输到高尔基体并随后进行修饰和糖基化疾病。附属组织包括肝脏和眼睛，相关表型为异常循环酶浓度或活性和癫痫发作。

Related ID：

MALACARDS：CNG196

OMIM：603147

MESH：D018981