congenital disorder of glycosylation type 2C (CDG2C);

Introduction

Also see congenital disorder of glycosylation

Pathology

• lack of fucosylated glycoconjugates, including selectin ligands

Genetics

• associated with mutation in gene for SLC35C1

Clinical manifestations

• clinical features of CDG2C include:
  • mental retardation
  • short stature
  • facial stigmata
  • recurrent bacterial infections

Laboratory

• complete blood count (CBC):
  • persistently elevated WBC

More general terms

• congenital disorder of glycosylation
• leukocyte adhesion deficiency-2

Additional terms

• solute carrier family 35 member C1 (SLC35C1, GDP-fucose transporter 1, FUCT1)

Database

• OMIM: https://mirror.omim.org/entry/266265