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

Summary

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CDGIE, MPDS, DPM1
    Summary: dolichyl-phosphate mannosyltransferase subunit 1, catalytic

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