Mannosyltransferase 8 deficiency (Q94034): Difference between revisions
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As síndromes CDG (distúrbios congênitos de glicosilação) são um grupo de distúrbios autossômicos recessivos que afetam a síntese de glicoproteínas. A síndrome CDG tipo 1G é caracterizada por retardo psicomotor, hipotonia, dismorfismo facial, deficiência de crescimento e anomalias de coagulação. Foi descrito em seis crianças. Hipoplasia genital em homens e infecções recorrentes, provavelmente associadas a uma diminuição nos níveis de imunoglobulina G, também foram relatadas em alguns dos pacientes. A síndrome está associada a mutações no gene ALG12 (localizado no cromossomo 22), levando a uma deficiência na enzima alfa-1,6-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 Ig is characterised by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation anomalies. It has been described in six children. Genital hypoplasia in the males and recurrent infections, probably associated with a decrease in immunoglobulin G levels, were also reported in some of the patients. The syndrome is associated with mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase. | |||
Revision as of 09:08, 16 August 2026
The CDG (Congenital disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ig is characterised by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation anomalies. It has been described in six children. Genital hypoplasia in the males and recurrent infections, probably associated with a decrease in immunoglobulin G levels, were also reported in some of the patients. The syndrome is associated with mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_160861812 |
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| English | Mannosyltransferase 8 deficiency |
The CDG (Congenital disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ig is characterised by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation anomalies. It has been described in six children. Genital hypoplasia in the males and recurrent infections, probably associated with a decrease in immunoglobulin G levels, were also reported in some of the patients. The syndrome is associated with mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase. |
