Preferred Label : Mannosyltransferase 8 deficiency;
ICD-11 definition : The CDG (Congenital disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ig is characterised
by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation
anomalies. It has been described in six children. Genital hypoplasia in the males
and recurrent infections, probably associated with a decrease in immunoglobulin G
levels, were also reported in some of the patients. The syndrome is associated with
mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in
the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase.;
ICD-11 synonym : CDG - [Congenital disorder of glycosylation] syndrome type 1G; Congenital disorder of glycosylation type 1G; CDG syndrome type 1G; Dol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase deficiency; Carbohydrate deficient glycoprotein syndrome type 1G;
Origin ID : 160861812;
Currated CISMeF NLP mapping
The CDG (Congenital disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ig is characterised
by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation
anomalies. It has been described in six children. Genital hypoplasia in the males
and recurrent infections, probably associated with a decrease in immunoglobulin G
levels, were also reported in some of the patients. The syndrome is associated with
mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in
the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase.
