Preferred Label : Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency;
ICD-11 definition : The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised
by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular
exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl.
The syndrome is caused by a mutation in the gene (localised to the q23.3 region of
chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate
N-acetylglucosamine phosphotransferase (DPAGT1).;
ICD-11 synonym : CDG syndrome type 1J; Carbohydrate deficient glycoprotein syndrome type 1J; CDG - [Congenital disorder of glycosylation] syndrome type 1J; UDP-GlcNAc: Dol-P-GlcNac-P transferase deficiency; Congenital disorder of glycosylation type 1J;
Origin ID : 409877897;
Currated CISMeF NLP mapping
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal
recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised
by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular
exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl.
The syndrome is caused by a mutation in the gene (localised to the q23.3 region of
chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate
N-acetylglucosamine phosphotransferase (DPAGT1).
