Preferred Label : Mannosyltransferase 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 Ik is characterised
by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations
(hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe
infections) may also be present. It has been described in four boys, three of whom
died within the first year of life. The syndrome is associated with mutations in the
ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency
in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase.;
ICD-11 synonym : Dol-P-Man: GlcNAc2-P-P-Dol mannosyltransferase deficiency; CDG syndrome type 1K; CDG - [Congenital disorder of glycosylation] syndrome type 1K; Carbohydrate deficient glycoprotein syndrome type 1K; Congenital disorder of glycosylation type 1K;
Origin ID : 836240672;
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 Ik is characterised
by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations
(hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe
infections) may also be present. It has been described in four boys, three of whom
died within the first year of life. The syndrome is associated with mutations in the
ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency
in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase.
