Congenital Disorder of Glycosylation, Type It (CDG1T)

先天性糖基化异常1t型(来自ICD-11)

别称:

Glycogen Storage Disease Xiv

Cdg1t

Congenital Disorder of Glycosylation Type It

Congenital Disorder of Glycosylation 1t

Phosphoglucomutase 1 Deficiency

Pgm1 Deficiency

Gsd Xiv

Cdg It

Cdg-It

Cdgit

Gsd14

Pgm1-Related Congenital Disorder of Glycosylation

Glycosylation, Congenital Disorder of, Type It

Congenital Disorder of Glycosylation Type 1t

Pgm1-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation It

Phosphoglucomutase-1 Deficiency

Cdg Syndrome Type It

Pgm1-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It，又称糖原贮积病xiv，与先天性糖基化障碍，类型in和糖原贮积病有关，症状包括疲劳和肌肉无力。与先天性糖基化障碍，类型It有关的重要基因是PGM1（磷酸葡萄糖变位酶1）。药物Pharmaceutical Solutions已在该疾病的背景下被提及。附属组织包括肝脏和甲状腺，相关表型为低血糖和生长迟缓。

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