This report describes general characteristics of the group of diseases classified as congenital disorders of glycosylation (CDG), type I. CDG, type I is a genetically heterogeneous disorder with many causative genes. Most CDGs stem from defects in genes involved in N-linked glycosylation. A listing of the congenital disorders of glycosylation, type I subtypes, as defined by OMIM, can be found in the table below; currently a fly model exists for one of these subtypes. See also the human disease model report for 'congenital disorders of glycosylation, type II' (FBhh0000042).
[updated Jun. 2017 by FlyBase; FBrf0222196]
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders.
Congenital disorders of glycosylation (CDGs) are caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. There are two main types of CDGs: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. [from MIM:212065; 17.06.23]
