Congenital Disorder of Glycosylation, Type Ix (CDG1X)

Alias:

Cdg1x

Congenital Disorder of Glycosylation Type Ix

Congenital Disorder of Glycosylation 1x

Cdg Ix

Cdg-Ix

Cdgix

Carbohydrate Deficient Glycoprotein Syndrome Type Ix

Glycosylation, Congenital Disorder of, Type Ix

Congenital Disorder of Glycosylation Type 1x

Stt3b-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation Ix

Cdg Syndrome Type Ix

Stt3b-Cdg

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ix, also known as cdg1x, is related to stt3a-cdg and stt3b-cdg and thrombophilia due to thrombin defect. An important gene associated with Congenital Disorder of Glycosylation, Type Ix is STT3B (STT3 Oligosaccharyltransferase Complex Catalytic Subunit B). Affiliated tissues include testes and bone marrow, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：CNG403

OMIM：615597

MESH：D018981