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

Introduction

Also see congenital disorder of glycosylation

Genetics

• associated with defects in MPI (mannose-6-phosphate isomerase)

Clinical manifestations

• see congenital disorder of glycosylation
• type 1B is associated with protein-losing enteropathy

Laboratory

• MPI gene mutation

More general terms

• congenital disorder of glycosylation

Additional terms

• mannose-6-phosphate isomerase; phosphomannose isomerase; PMI; phosphohexomutase (MPI, PMI1)

Database

• OMIM: https://mirror.omim.org/entry/602579