Congenital Disorder of Glycosylation, Type Iik (CDG2K)

Alias:

Congenital Disorder of Glycosylation Type Iik

Cdg2k

Cdg Iik

Carbohydrate Deficient Glycoprotein Syndrome Type Iik

Congenital Disorder of Glycosylation Type 2k

Cdg Syndrome Type Iik

Cdg-Iik

Cdgiik

Glycosylation, Congenital Disorder of, Type Iik

Tmem165-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation 2k

Tmem165-Cdg

Cdgiidk

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Iik, also known as congenital disorder of glycosylation type iik, is related to congenital disorder of glycosylation, type ih and congenital disorder of glycosylation, type iim, and has symptoms including muscle weakness An important gene associated with Congenital Disorder of Glycosylation, Type Iik is TMEM165 (Transmembrane Protein 165), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include bone and eye, and related phenotypes are midface retrusion and amelogenesis imperfecta

Related ID：

MALACARDS：CNG383

OMIM：614727

MESH：D018981