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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

55 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2I (6) PMM2-congenital disorder of glycosylation (5) Dowling-Degos disease 1 (4) GNE myopathy (2) Leukocyte adhesion deficiency type II (2) 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 2P (1) Autosomal recessive limb-girdle muscular dystrophy type 2R1 (1) Autosomal recessive limb-girdle muscular dystrophy type 2T (1) Autosomal recessive limb-girdle muscular dystrophy type 2U (1) Congenital dyserythropoietic anemia type 2 (1) Immunodeficiency 23 (1) MPI-congenital disorder of glycosylation (1) Myopathy caused by variation in FKTN (1) PGM1-congenital disorder of glycosylation (1) Reunion island Larsen syndrome (1) SLC35A2-congenital disorder of glycosylation (1)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 19 Not yet recruiting 9 Not yet finished but already full! 13 Completed 13 Terminated 1
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