Glucosyltransferase 2 deficiency (Q94033): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/1039779684 / rank | |||
Normal rank | |||
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 Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1039779684 |
||
| English | Glucosyltransferase 2 deficiency |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase. |
