Mannosyltransferase 6 deficiency (Q94038): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
As síndromes CDG (doenças congênitas de glicosilação) são um grupo de doenças autossômicas recessivas que afetam a síntese de glicoproteínas. A síndrome CDG tipo 1D é caracterizada por atraso psicomotor grave, convulsões, hipotonia, dismorfismo facial, microcefalia e anomalias oculares. Foi descrito em cinco crianças. A síndrome é causada por mutações no gene ALG3 (localizado na região q27 do cromossomo 3) levando a uma deficiência de uma das manosiltransferases 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 Id is characterised by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly and ocular anomalies. It has been described in five children. The syndrome is caused by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase). | |||
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 Id is characterised by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly and ocular anomalies. It has been described in five children. The syndrome is caused by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1699521762 |
||
| English | Mannosyltransferase 6 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Id is characterised by severe psychomotor delay, seizures, hypotonia, facial dysmorphism, microcephaly and ocular anomalies. It has been described in five children. The syndrome is caused by mutations in the ALG3 gene (localised to the q27 region of chromosome 3) leading to a deficiency of one of the endoplasmic reticulum mannosyltransferases (dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase). |
