Congenital Disorder of Glycosylation, Type Id (CDG1D)

Alias:

Cdg1d

Congenital Disorder of Glycosylation Id

Congenital Disorder of Glycosylation 1d

Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly

Carbohydrate Deficient Glycoprotein Syndrome Type Id

Carbohydrate-Deficient Glycoprotein Syndrome Type Iv

Glycosylation, Congenital Disorder of, Type Id

Congenital Disorder of Glycosylation Type 1d

Congenital Disorder of Glycosylation Type Id

Alg3-Congenital Disorder of Glycosylation

Mannosyltransferase 6 Deficiency

Cdgs, Type Iv, Formerly

Cdg Syndrome Type Id

Cdgs4, Formerly

Alg3-Cdg

Cdg Id

Cdg-Id

Cdgid

Cdgs4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Id, also known as cdg1d, is related to developmental and epileptic encephalopathy 36 and congenital disorder of glycosylation, type in, and has symptoms including diarrhea, seizures and vomiting. An important gene associated with Congenital Disorder of Glycosylation, Type Id is ALG3 (ALG3 Alpha-1,3- Mannosyltransferase). Affiliated tissues include liver and brain, and related phenotypes are abnormal circulating enzyme concentration or activity and hypotonia

Related ID：

MALACARDS：CNG195

OMIM：601110

MESH：D018981