Dolichol-phosphate-mannose synthase 1 deficiency (Q90011): Difference between revisions
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As síndromes CDG (doenças congênitas de glicosilação) são um grupo de doenças autossômicas recessivas que afetam a síntese de glicoproteínas. A síndrome CDG tipo 1E é caracterizada por retardo psicomotor, convulsões, hipotonia, dismorfismo facial e microcefalia. As anomalias oculares também são muito comuns. A síndrome foi descrita em sete crianças. É causada por mutações no gene DPM (localizado na região q13.13 do cromossomo 20) levando a uma deficiência na enzima do retículo endoplasmático dolicol-P-manose sintase 1. | |||
| description / en | description / en | ||
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. | |||
Revision as of 16:56, 15 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_561449953 |
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| English | Dolichol-phosphate-mannose synthase 1 deficiency |
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. |
