Congenital disorder of glycosylation type 1C

Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide

Also Known As:

Carbohydrate-deficient glycoprotein syndrome type V; Congenital Disorder Of Glycosylation, Type Ic

Networked: 3 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 1C: 3
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 1C: 3

Experts

1.	Dabelic, Sanja: 1 article (01/2011)
2.	Dumic, Jerka: 1 article (01/2011)
3.	Goreta, Sandra Supraha: 1 article (01/2011)
4.	Grünewald, S: 1 article (06/2000)
5.	Hennet, T: 1 article (06/2000)
6.	Huijben, K: 1 article (06/2000)
7.	Imbach, T: 1 article (06/2000)
8.	Jaeken, J: 1 article (06/2000)
9.	Matthijs, G: 1 article (06/2000)
10.	Rubio-Gozalbo, M E: 1 article (06/2000)

Drugs and Biologics

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

1.	GlucosyltransferasesIBA 10/27/1998 - "Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase." 01/01/2011 - "Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in hALG6 gene encoding α-1,3 glucosyltransferase (NP_037471.2), an enzyme that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor in N-glycosylation process. "
2.	Polysaccharides (Glycans)IBA 06/01/2000 - "Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis."
3.	OligosaccharidesIBA 01/01/2011 - "Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in hALG6 gene encoding α-1,3 glucosyltransferase (NP_037471.2), an enzyme that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor in N-glycosylation process. "
4.	LipidsIBA 01/01/2011 - "Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in hALG6 gene encoding α-1,3 glucosyltransferase (NP_037471.2), an enzyme that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor in N-glycosylation process. "
5.	Glucose (Dextrose)FDA LinkGeneric 01/01/2011 - "Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in hALG6 gene encoding α-1,3 glucosyltransferase (NP_037471.2), an enzyme that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor in N-glycosylation process. "
6.	EnzymesIBA 01/01/2011 - "Congenital disorder of glycosylation type Ic (CDG-Ic) is caused by mutations in hALG6 gene encoding α-1,3 glucosyltransferase (NP_037471.2), an enzyme that catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor in N-glycosylation process. "
7.	mannosyl(9)-N-acetylglucosamine2IBA 10/27/1998 - "Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase."