Preferred Label : Glucosyltransferase 1 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ic is characterised
by psychomotor delay and muscular hypotonia. It has been described in more than 30
individuals so far. Hepatic and intestinal manifestations were also often reported.
Coagulation anomalies, hormonal abnormalities and seizures may also be present and
life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised
to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum
enzyme alpha1,3-glucosyltransferase.;
ICD-11 synonym : Dol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency; Congenital disorder of glycosylation type 1C; CDG syndrome type 1C; Carbohydrate deficient glycoprotein syndrome type 1C; CDG - [Congenital disorder of glycosylation] syndrome type 1C;
Origin ID : 603963810;
Automatic exact mappings (from CISMeF team)
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ic is characterised
by psychomotor delay and muscular hypotonia. It has been described in more than 30
individuals so far. Hepatic and intestinal manifestations were also often reported.
Coagulation anomalies, hormonal abnormalities and seizures may also be present and
life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised
to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum
enzyme alpha1,3-glucosyltransferase.
