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

Introduction

Also see congenital disorder of glycosylation

Genetics

• autosomal recessive
• associated with defects in PMM2

Clinical manifestations

• see congenital disorder of glycosylation
• type 1A is associated with
  • severe encephalopathy with axial hypotonia
  • abnormal eye movement
  • psychomotor retardation
  • peripheral neuropathy
  • cerebellar hypoplasia
  • retinitis pigmentosa
  • peculiar distribution of subcutaneous fat
  • nipple retraction
  • hypogonadism

Laboratory

• PMM2 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/212065