Immunodeficiency 47 (IMD47)

Alias:

Congenital Disorder of Glycosylation Type Ii

Congenital Disorder of Glycosylation Type Iie

Cdg2e

Immunodeficiency and Hepatopathy with or Without Neurologic Features

Congenital Disorder of Glycosylation, Type Ii

Congenital Disorder of Glycosylation Type 2e

Cdg Iis

Cdg Iie

Cdgiis

Imd47

Cdg2s

Cdg1i

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Congenital Disorder of Glycosylation, Type Iis

Congenital Disorder of Glycosylation, Type Iie

Congenital Disorder of Glycosylation Ii

Congenital Disorder of Glycosylation 1i

Cdg Syndrome Type Iie

Cdg-Iie

Cdg Ii

Cdgiie

Cdg-Ii

Cdgii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Glycosylation, Congenital Disorder of, Type Iie

Glycosylation, Congenital Disorder of, Type Ii

Congenital Disorder of Glycosylation Type Iis

Congenital Disorders of Glycosylation Type Ii

Congenital Disorder of Glycosylation Type 2a

Congenital Disorder of Glycosylation Type 1i

Cog7 Congenital Disorder of Glycosylation

Alg2-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation 2e

Congenital Disorder of Glycosylation 2s

Mannosyltransferase 2 Deficiency

Immunodeficiency, Type 47

Cdg Syndrome Type Ii

Cdg Syndrome Type 2

Cog7-Cdg

Alg2-Cdg

Cdgiide

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

免疫缺陷47，也称为先天性糖基化紊乱型II，与先天性糖基化紊乱型IIl和先天性糖基化紊乱型Iij有关，症状包括癫痫发作。与免疫缺陷47有关的重要基因是ATP6AP1（ATPase H+ Transporting Accessory Protein 1），其相关通路/超级通路包括传染病和蛋白质代谢。附属组织包括肝脏和皮肤，相关表型为生长迟缓和肌张力低下。

Related ID：

MALACARDS：IMM140

OMIM：300972

MESH：C535747