Mannose-P-dolichol utilisation defect 1 (Q89996): Difference between revisions
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| description / pt-br | description / pt-br | ||
As síndromes CDG (distúrbios congênitos de glicosilação) são um grupo de doenças autossômicas recessivas que afetam a síntese de glicoproteínas. O tipo de síndrome CDG se caracteriza por retardo psicomotor, convulsões, deficiência de crescimento e anomalias cutâneas e oculares. Foi descrito em quatro crianças. A síndrome é causada por mutações no gene MPDU1, localizado na região p13.1-p12 do cromossomo 17. | |||
| description / en | description / en | ||
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17. | |||
Revision as of 16:55, 15 August 2026
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2086182172 |
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| English | Mannose-P-dolichol utilisation defect 1 |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17. |
