Mannosyltransferase 7-9 deficiency (Q94047): 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 do tipo 1L é caracterizada por atraso psicomotor, convulsões, hipotonia e hepatomegalia. Foi descrito em duas meninas. A síndrome está associada a mutações no gene ALG9 (localizado na região q23 do cromossomo 11), levando a uma deficiência na enzima alfa-1,2-manosil transferase do retículo endoplasmático. | |||||||||||||||
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The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2996593 / rank | |||||||||||||||
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CID11:ID_2996593 | |||||||||||||||
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dki-india-ID_2996593 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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Latest 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 IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2996593 |
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| English | Mannosyltransferase 7-9 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IL is characterised by psychomotor delay, seizures, hypotonia and hepatomegaly. It has been described in two girls. The syndrome is associated with mutations in the ALG9 gene (localised to the q23 region of chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,2-mannosyl transferase. |
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CID11:ID_2996593
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dki-india-ID_2996593
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Concluído
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15 August 2026
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