Preferred Label : Dolichol-phosphate-mannose synthase 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 Ie is characterised
by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular
anomalies are also very common. The syndrome has been described in seven children.
It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome
20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose
synthase 1.;
ICD-11 synonym : Congenital disorder of glycosylation type 1E; Carbohydrate deficient glycoprotein syndrome type 1E; GDP-Man: Dol-P-mannosyltransferase deficiency; CDG - [Congenital disorder of glycosylation] syndrome type 1E; CDG syndrome type 1E;
Origin ID : 561449953;
Currated CISMeF NLP mapping
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised
by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular
anomalies are also very common. The syndrome has been described in seven children.
It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome
20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose
synthase 1.
