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

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 47, also known as congenital disorder of glycosylation type ii, is related to congenital disorder of glycosylation, type iil and congenital disorder of glycosylation, type iij, and has symptoms including seizures An important gene associated with Immunodeficiency 47 is ATP6AP1 (ATPase H+ Transporting Accessory Protein 1), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include liver and skin, and related phenotypes are failure to thrive and hypotonia

Related ID：

MALACARDS：IMM140

OMIM：300972

MESH：C535747