Preferred Label : Mannosyltransferase 2 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised
by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract,
nystagmus and coagulation anomalies. To date, the syndrome has been reported in only
one girl. It is associated with a mutation in the ALG2 gene (localised to the q22
region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme
alpha-1,3-mannosyl transferase.;
ICD-11 synonym : CDG - [Congenital disorder of glycosylation] syndrome type 1I; CDG syndrome type 1I; Carbohydrate deficient glycoprotein syndrome 1I; Dol-P-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase deficiency; Congenital disorder of glycosylation 1I;
Origin ID : 1768777374;
Currated CISMeF NLP mapping
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised
by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract,
nystagmus and coagulation anomalies. To date, the syndrome has been reported in only
one girl. It is associated with a mutation in the ALG2 gene (localised to the q22
region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme
alpha-1,3-mannosyl transferase.
