ALG2-CDG (CDG-Ii)

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Other Names: ALG2-CDG, CDG 1I, CDG syndrome type Ii, CDG-Ii, CDG1I, Carbohydrate deficient glycoprotein syndrome type Ii, Carbohydrate-deficient glycoprotein syndrome type 1I, Congenital disorder of glycosylation type 1i, Congenital disorder of glycosylation type Ii, Congenital disorder of glycosylation, type Ii , Mannosyltransferase 2 deficiency See more

Categories: Congenital and Genetic Diseases, Digestive Diseases, Metabolic disorders, Nervous System Diseases

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Congenital disorders of glycosylation, ALG2-CDG (CDG-Ii)

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Description

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

orphanet

Orpha Number: 79326

Definition

A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.

Visit the Orphanet disease page for more resources.

Source: GARD Last updated on 05-01-20

Symptoms

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

Name: CDG CARE PO Box 38832
Colorado Springs, CO, 80937, Toll Free: (866) 295-7910 Email: info@cdgcare.com Url: http://cdgcare.com/

Name: Portugese Association for CDG and other Rare Metabolic Diseases APCDG-DMR Url: http://www.apcdg.com/

Thiel C & cols. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis J Biol Chem. April 8, 2003; 278(25. 22498-505. Reference Link

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ALG2-CDG (CDG-Ii)

Table of Contents

Description

Symptoms

Symptoms and their Known Frequencies

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ALG2-CDG (CDG-Ii)

Table of Contents

Description

Symptoms

Symptoms and their Known Frequencies

Organizations

References

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