GTR Home > Conditions/Phenotypes > Congenital disorder of glycosylation type 1K

Summary

Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1, ALG1
    Summary: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

Clinical features

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