Congenital Disorder of Glycosylation, Type Ib

Alternative Names

  • CDG1B
  • CDG Ib
  • CDGIb
  • CDG, Gastrointestinal Type
  • Mannosephosphate Isomerase Deficiency
  • MPI Deficiency
  • Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome
  • Saguenay-Lac Saint-Jean Syndrome
  • SLSJ Syndrome
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Congenital Disorders of Glycosylations (CDGs) are a group of metabolic disorders characterized by defective N-terminal glycosylation of proteins. This, in turn leads to the build-up of intermediate chemical compounds in the body, causing a variety of complications. 

CDG1B is caused by  mutations in the gene encoding mannosephosphate isomerase.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
602579.1LebanonMaleNoNo Chronic diarrhea; Neonatal hypoglycemia...NM_002435.2:c.305C>T, NM_002435.2:c.413T>CHeterozygousAutosomal, RecessiveJaeken et al, 1998 Compound heterozygou...
602579.2.1United Arab EmiratesFemaleNoYes Hyperinsulinemic hypoglycemia; Elevated...NM_002435.2:c.863C>THomozygousAutosomal, RecessiveDeeb et al, 2018
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