Congenital Disorder of Glycosylation, Type Iia (CDG2A)

先天性糖蛋白糖基化障碍IIa型(来自ICD-11)

别称:

Congenital Disorder of Glycosylation Type Iia

Cdg2a

Congenital Disorder of Glycosylation Type 2a

Cdg Iia

Cdgiia

Mental Retardation, Growth Retardation, Prominent Columella, and Open Mouth

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii

Alkuraya Syndrome

Cdg-Iia

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Iia

Carbohydrate-Deficient Glycoprotein Syndrome Type Ii

Carbohydrate-Deficient Glycoprotein Syndrome Type 2

Glycosylation, Congenital Disorder of, Type Iia

N-Acetylglucosaminyltransferase 2 Deficiency

Mgat2-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation 2a

Cdg Syndrome Type Iia

Cdgs2, Formerly

Cdgs Type Ii

Mgat2-Cdg

Cdgs2

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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Iia，也称为先天性糖基化障碍类型Iia，与先天性糖基化障碍类型Iin和先天性糖基化障碍类型Ia有关，症状包括癫痫发作。与先天性糖基化障碍，类型Iia有关的重要基因是MGAT2（α-1,6-岩藻糖基糖蛋白2-β-乙酰基葡萄糖胺转移酶），其相关通路/超级通路包括传染病和蛋白质代谢。附属组织包括大脑和舌头，相关表型为全球发育延迟和异常面部形状。

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