congenital disorder of glycosylation type 1C; carbohydrate-deficient glycoprotein syndrome type V

Introduction

Also see congenital disorder of glycosylation

Pathology

• metabolic deficiencies in glycoprotein biosynthesis
• under-glycosylated plasma glycoproteins
• accumulation of dolichyl pyrophosphate-linked man(9)GlcNAc(2) in the endoplasmic reticulum

Genetics

• associated with mutation in gene for ALG6

Clinical manifestations

• muscular hypotonia
• mental retardation
• psychomotor retardation

More general terms

• congenital disorder of glycosylation

Additional terms

• dolichyl pyrophosphate man9GlcNAc2 alpha-1,3-glucosyltransferase; asparagine-linked glycosylation protein 6 homolog; dol-P-Glc:man(9)GlcNAc(2)-PP-dol alpha-1,3-glucosyltransferase; dolichyl-P-Glc:man9GlcNAc2-PP-dolichyl glucosyltransferase (ALG6)

Database

• OMIM: https://mirror.omim.org/entry/603147