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GTR Home > Conditions/Phenotypes > ALG3-congenital disorder of glycosylation

Summary

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). For a discussion of the classification of CDGs, see CDG1A (212065). [from OMIM]

Available tests

40 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CDG1D, CDGS4, CDGS6, D16Ertd36e, NOT56L, Not56, not, ALG3
    Summary: ALG3 alpha-1,3- mannosyltransferase

Clinical features

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