Congenital Disorder of Glycosylation, Type Im (CDG1M)

Alias:

Dolichol Kinase Deficiency

Cdg1m

Congenital Disorder of Glycosylation Type Im

Dk1 Deficiency

Cdg-Im

Hypotonia and Ichthyosis Due to Dolichol Phosphate Deficiency

Carbohydrate Deficient Glycoprotein Syndrome Type Im

Congenital Disorder of Glycosylation Type 1m

Dolk-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation Im

Congenital Disorder of Glycosylation 1m

Cdg Syndrome Type Im

Dk1-Cdg

Cdg Im

Cdgim

Glycosylation, Congenital Disorder of, Type Im

Dk1-Congenital Disorder of Glycosylation

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Im, also known as dolichol kinase deficiency, is related to congenital disorder of glycosylation, type ia and developmental and epileptic encephalopathy 36. An important gene associated with Congenital Disorder of Glycosylation, Type Im is DOLK (Dolichol Kinase), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include skin and heart, and related phenotypes are dilated cardiomyopathy and type i transferrin isoform profile

Related ID：

MALACARDS：CNG199

OMIM：610768

MESH：D018981