DPM1-CDG (CDG-Ie)

Alternate names

CDG 1E; CDG1E; Carbohydrate-deficient glycoprotein syndrome type 1E; DPM1-CDG (CDG-Ie); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG syndrome type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Congenital disorder of glycosylation type 1e; Carbohydrate deficient glycoprotein syndrome type Ie; Congenital disorder of glycosylation type Ie; DPM1-CDG

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.

Epidemiology

The syndrome has been described in seven children.

cause

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.

NIH genetic and rare disease info

• NIH info on DPM1-CDG (CDG-Ie)

DPM1-CDG (CDG-Ie) is a rare disease.

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