Congenital Disorder of Glycosylation, Type Ih (CDG1H)

Alias:

Cdg1h

Congenital Disorder of Glycosylation Type 1h

Congenital Disorder of Glycosylation Type Ih

Congenital Disorder of Glycosylation 1h

Cdg Ih

Cdg-Ih

Cdgih

Carbohydrate Deficient Glycoprotein Syndrome Type Ih

Glycosylation, Congenital Disorder of, Type Ih

Alg8 Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation Ih

Glucosyltransferase 2 Deficiency

Cdg Syndrome Type Ih

Alg8-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ih, also known as cdg1h, is related to congenital disorder of glycosylation, type in and immunodeficiency 47. An important gene associated with Congenital Disorder of Glycosylation, Type Ih is ALG8 (ALG8 Alpha-1,3-Glucosyltransferase), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Diseases of glycosylation. Affiliated tissues include liver and eye, and related phenotypes are hypotonia and abnormal facial shape

Related ID：

MALACARDS：CNG197

OMIM：608104

MESH：D018981