Congenital Disorder of Glycosylation, Type Ig (CDG1G)

Alias:

Alg12-Congenital Disorder of Glycosylation

Cdg1g

Congenital Disorder of Glycosylation Type 1g

Congenital Disorder of Glycosylation Type Ig

Cdg Ig

Congenital Disorder of Glycosylation Ig

Congenital Disorder of Glycosylation 1g

Cdg-Ig

Cdgig

Carbohydrate Deficient Glycoprotein Syndrome Type Ig

Glycosylation, Congenital Disorder of, Type Ig

Mannosyltransferase 8 Deficiency

Cdg Syndrome Type Ig

Alg12-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ig, also known as alg12-congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type in and developmental and epileptic encephalopathy 36. An important gene associated with Congenital Disorder of Glycosylation, Type Ig is ALG12 (ALG12 Alpha-1,6-Mannosyltransferase). Affiliated tissues include testes and bone, and related phenotypes are abnormal circulating enzyme concentration or activity and abnormality of the genitourinary system

Related ID：

MALACARDS：CNG194

OMIM：607143

MESH：D018981