Congenital disorder of glycosylation type 1D

Also Known As:

CDG1D; Carbohydrate-deficient glycoprotein syndrome, type 4; Congenital Disorder Of Glycosylation, Type ID

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570
        Congenital disorder of glycosylation type 1D: 2
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 570
        Congenital disorder of glycosylation type 1D: 2

Experts

1.	Denecke, Jonas: 2 articles (08/2005 - 05/2004)
2.	Kranz, Christian: 2 articles (08/2005 - 05/2004)
3.	Marquardt, Thorsten: 2 articles (08/2005 - 05/2004)
4.	Bosse, Kristin: 1 article (08/2005)
5.	Debus, Otfried: 1 article (08/2005)
6.	Harms, Erik: 1 article (08/2005)
7.	Herkenrath, Peter: 1 article (08/2005)
8.	von Kleist-Retzow, Juergen Ch: 1 article (08/2005)
9.	Kemming, Dirk: 1 article (05/2004)
10.	Koch, Hans-Georg: 1 article (05/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital disorder of glycosylation type 1D:

1.	MannosyltransferasesIBA 08/01/2005 - "Congenital disorder of glycosylation type Id is an inherited glycosylation disorder based on a defect of the first mannosyltransferase involved in N-glycan biosynthesis inside the endoplasmic reticulum. " 05/01/2004 - "A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). "
2.	RNA Splice SitesIBA 05/01/2004 - "An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)."
3.	Nonsense Codon (Nonsense Mutation)IBA 05/01/2004 - "An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)."
4.	Polysaccharides (Glycans)IBA 08/01/2005 - "Congenital disorder of glycosylation type Id is an inherited glycosylation disorder based on a defect of the first mannosyltransferase involved in N-glycan biosynthesis inside the endoplasmic reticulum. "
5.	Fetal Proteins (Fetoprotein)IBA 08/01/2005 - "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins."
6.	mannosyl(5)-N-acetyl(2)-glucoseIBA 05/01/2004 - "A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). "