Congenital Disorder of Glycosylation, Type Iid (CDG2D)

先天性糖基化异常IId型(来自ICD-11)

别称:

Congenital Disorder of Glycosylation Type Iid

Cdg2d

Cdg Iid

Cdgiid

Congenital Disorder of Glycosylation Type 2d

Cdg-Iid

Carbohydrate Deficient Glycoprotein Syndrome Type Iid

Glycosylation, Congenital Disorder of, Type Iid

Congenital Disorder of Glycosylation, Type Iiid

B4galt1-Congenital Disorder of Glycosylation

Beta-1,4-Galactosyltransferase Deficiency

Congenital Disorder of Glycosylation 2d

Cdg Syndrome Type Iid

B4galt1-Cdg

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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Iid，也称为先天性糖基化障碍类型iid，与先天性糖基化障碍类型I和脑积水有关。与先天性糖基化障碍，类型Iid相关的基因是B4GALT1（β-1,4-半乳糖基转移酶1），其相关通路/超级通路包括传染病和蛋白质代谢。相关组织包括肝脏和皮肤，相关表型为血清肌酸激酶浓度升高和婴儿肌肉张力低下。

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