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GTR Home > Conditions/Phenotypes > B4GALT1-congenital disorder of glycosylation

B4GALT1-congenital disorder of glycosylation

Synonyms
B4GALT1-CDG; B4GALT1-CDG (CDG-IId); CDG 2D; CDG IId; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; Congenital disorder of glycosylation type 2D
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B4GAL-T1, CDG2D, CLDLFIB, GGTB2, GT1, GTB, beta4Gal-T1, B4GALT1
    Summary: beta-1,4-galactosyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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