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Congenital disorder of glycosylation

MONDO:0015286

Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.

Also known as: CDG, carbohydrate deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndrome, congenital disorder of glycosylation, carbohydrate-deficient glycoprotein syndromes, congenital disorders of glycosylation

36 clinical trials for this condition and its sub-types, 7 tagged with Congenital disorder of glycosylation itself.

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Where it sits in the disease tree

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Part of

↑ Inborn errors of metabolism (2231)

Sub-types of Congenital disorder of glycosylation

Most studied deeper sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2I (8) Dowling-Degos disease 1 (4) Autosomal recessive limb-girdle muscular dystrophy type 2K (1) Autosomal recessive limb-girdle muscular dystrophy type 2M (1) Autosomal recessive limb-girdle muscular dystrophy type 2N (1) Autosomal recessive limb-girdle muscular dystrophy type 2O (1) Autosomal recessive limb-girdle muscular dystrophy type 2T (1) Autosomal recessive limb-girdle muscular dystrophy type 2U (1) Myopathy caused by variation in FKTN (1) Autosomal recessive spondylocostal dysostosis (0) Congenital muscular dystrophy caused by variation in POMGNT2 (0) Congenital myasthenic syndrome 14 (0) Developmental and epileptic encephalopathy, 15 (0) Dowling-Degos disease (0) Dowling-Degos disease 2 (0) Dowling-degos disease 3 (0) Dowling-Degos disease 4 (0) Gillessen-Kaesbach-Nishimura syndrome (0) Hyperphosphatasia with intellectual disability syndrome 1 (0) Hyperphosphatasia with intellectual disability syndrome 2 (0)
Including sub-types (36) Tagged with Congenital disorder of glycosylation (7)
Trials to join now! 3 Completed 4
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