congenital disorder of glycosylation
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.
MONDO:0019214
inborn carbohydrate metabolic disorder
excluded_subClassOf
MONDO:0019052
inborn errors of metabolism
is_a
CDG
exact
carbohydrate deficient glycoprotein syndrome
exact
carbohydrate-deficient glycoprotein syndrome
exact
carbohydrate-deficient glycoprotein syndromes
related
congenital disorder of glycosylation
exact
congenital disorders of glycosylation
related
SPBC21B10.11 SPAC13G6.03 SPAC18B11.05 SPAPB17E12.11 SPAC5D6.06c SPCC1906.01 SPAC1296.01c SPCC757.10 SPBC1734.12c SPAC16E8.07c SPAC227.19c SPBC2A9.06c SPBC1677.02 SPAC31G5.16c SPBC19G7.14c SPBC776.10c SPCC338.15 SPAPB2B4.01c SPBC32F12.10 SPAC144.15c SPBC887.19 SPBC13E7.05 SPAC4D7.04c SPAC22F8.04 SPAC22G7.06c SPCC1235.06 SPBC11B10.01 SPAC56E4.02c SPCC31H12.07 SPAC6G10.09 SPBC3D6.07 SPBC1271.02 SPCC63.10c SPAC186.05c SPBC2G2.16 SPAC17G8.08c SPBC1921.06c SPAC23C4.14 SPBC16C6.09 SPBC8D2.14c SPBC1539.05 SPAC17C9.07 SPAC7D4.06c SPBPJ4664.06 SPBC27B12.06 SPBC11B10.03 SPAC22A12.07c SPCC330.08 SPAC13C5.05c SPBC839.08c SPBC36.08c SPAC144.10c SPBC342.01c SPAC1556.07 SPAPB1E7.09 SPBC1604.15 SPAC1834.05 SPCC1672.12c SPAC823.07 SPBC15D4.04 SPCC1795.03 SPBC776.04 SPCC338.13 SPAC7D4.09c