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

602579

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q24.1

Description

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

View Map
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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