Congenital Disorder of Glycosylation, Type Ic (CDG1C)

Alias:

Cdg1c

Carbohydrate-Deficient Glycoprotein Syndrome Type V

Congenital Disorder of Glycosylation Type Ic

Congenital Disorder of Glycosylation Type 1c

Congenital Disorder of Glycosylation Ic

Congenital Disorder of Glycosylation 1c

Glucosyltransferase 1 Deficiency

Cdg Syndrome Type Ic

Cdgic

Carbohydrate-Deficient Glycoprotein Syndrome, Type I, with Deficient Glycosylation of Dolichol-Linked Oligosaccharide, Formerly

Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly

Carbohydrate-Deficient Glycoprotein Syndrome Type Ic

Carbohydrate Deficient Glycoprotein Syndrome Type Ic

Glycosylation, Congenital Disorder of, Type Ic

Alg6-Congenital Disorder of Glycosylation 1c

Alg6-Congenital Disorder of Glycosylation

Cdg Syndrome Type 1c

Cdgs5, Formerly

Alg6-Cdg

Cdg Ic

Cdg-Ic

Cdgs5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ic, also known as cdg1c, is related to congenital disorder of glycosylation, type in and protein-losing enteropathy, and has symptoms including ataxia and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type Ic is ALG6 (ALG6 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 abnormal circulating enzyme concentration or activity and seizure

Related ID：

MALACARDS：CNG196

OMIM：603147

MESH：D018981