Congenital Disorder of Glycosylation, Type Id (CDG1D)

先天性糖基化障碍Id型(来自ICD-11)

别称:

Cdg1d

Congenital Disorder of Glycosylation Id

Congenital Disorder of Glycosylation 1d

Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Id

Carbohydrate-Deficient Glycoprotein Syndrome Type Iv

Glycosylation, Congenital Disorder of, Type Id

Congenital Disorder of Glycosylation Type 1d

Congenital Disorder of Glycosylation Type Id

Alg3-Congenital Disorder of Glycosylation

Mannosyltransferase 6 Deficiency

Cdgs, Type Iv, Formerly

Cdg Syndrome Type Id

Cdgs4, Formerly

Alg3-Cdg

Cdg Id

Cdg-Id

Cdgid

Cdgs4

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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Id，也称为cdg1d，与发育性和癫痫性脑病36和先天性糖基化障碍，类型in有关，症状包括腹泻、癫痫发作和呕吐。与先天性糖基化障碍，类型Id有关的重要基因是ALG3（ALG3 Alpha-1,3- Mannosyltransferase）。相关组织包括肝脏和大脑，相关表型为异常循环酶浓度或活性和肌张力低下。

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