Mannosyltransferase 2 deficiency (Q94037): 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 1I é caracterizada por atraso psicomotor grave, convulsões, colobomas bilaterais da íris, catarata, nistagmo e anomalias de coagulação. Até o momento, a síndrome foi relatada em apenas uma menina. Está associada a uma mutação no gene ALG2 (localizado na região q22 do cromossomo 9) levando a uma deficiência na enzima alfa-1,3-manosil transferase do retículo endoplasmático. | |||
| description / en | description / en | ||
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract, nystagmus and coagulation anomalies. To date, the syndrome has been reported in only one girl. It is associated with a mutation in the ALG2 gene (localised to the q22 region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,3-mannosyl transferase. | |||
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 Ii is characterised by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract, nystagmus and coagulation anomalies. To date, the syndrome has been reported in only one girl. It is associated with a mutation in the ALG2 gene (localised to the q22 region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,3-mannosyl transferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1768777374 |
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| English | Mannosyltransferase 2 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ii is characterised by severe psychomotor delay, seizures, bilateral colobomas of the iris, cataract, nystagmus and coagulation anomalies. To date, the syndrome has been reported in only one girl. It is associated with a mutation in the ALG2 gene (localised to the q22 region of chromosome 9) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,3-mannosyl transferase. |
