Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency (Q94048): Difference between revisions
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As síndromes CDG (distúrbios congênitos de glicosilação) são um grupo de doenças autossômicas recessivas que afetam a síntese de glicoproteínas. A síndrome CDG tipo 1J é caracterizada por atraso psicomotor grave, convulsões, hipotonia e dismorfismo (microcefalia, exotropia ocular, micrognatia e clinodactilia). Até o momento, foi relatado em uma menina. A síndrome é causada por uma mutação no gene (localizado na região q23.3 do cromossomo 11) que codifica a enzima do retículo endoplasmático UDP-GlcNAc: dolicil-fosfato N-acetilglucosamina fosfotransferase (DPAGT1). | |||
| description / en | description / en | ||
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). | |||
Revision as of 09:09, 16 August 2026
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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_409877897 |
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| English | Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency |
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). |
