Preferred Label : Glucosyltransferase 2 deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised
by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia,
a renal tubulopathy and coagulation anomalies. It has been described in five children.
Facial dysmorphism was present in the more severely affected patients. Cataract and
osteopaenia were also sometimes present. The syndrome is associated with mutations
in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to
a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase.;
ICD-11 synonym : CDG - [Congenital disorder of glycosylation] syndrome type 1H; Congenital disorder of glycosylation type 1H; CDG syndrome type 1H; Carbohydrate deficient glycoprotein syndrome 1H; Dol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency;
Origin ID : 1039779684;
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 Ih is characterised
by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia,
a renal tubulopathy and coagulation anomalies. It has been described in five children.
Facial dysmorphism was present in the more severely affected patients. Cataract and
osteopaenia were also sometimes present. The syndrome is associated with mutations
in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to
a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase.
