Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00351 (Tree)
Name ALG2-CDG
Aliases CDG-Ii
Congenital disorder of glycosylation, type Ii
Disease name:　Preferred Term CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
Disease name:　Preferred Term ABBR CDG1I
Disease name:　Synonyms (from OMIM and MeSH) CDG Ii
Congenital disorder of glycosylation type 1I
CDGIi
UMLS CUI C1842836
UMLS SAB MeSH (SCR)
UMLS CODE C535747
OMIM DATA:　Gene ALG2
OMIM DATA:　Gene Number 607905
OMIM DATA:　Phenotype Number 607906
Symptoms, signs and abnormal clinical and laboratory findings
  • Cataract
  • Developmental Disabilities
  • Eye Abnormalities
  • Hematologic Diseases
  • Hepatomegaly
  • Intellectual Disability (Mental Retardation)
  • Lens Diseases
  • Liver Diseases
  • Mental Disorders Diagnosed in Childhood
  • Neurobehavioral Manifestations
  • Neurologic Manifestations
  • Seizures
  • Blood Coagulation Disorders
  • Coloboma
  • Epilepsy
  • Epilepsy, Generalized
  • Spasms, Infantile
References
  • Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways.
  • Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
  • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
  • Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 43
GGDB (Gene Symbol)
Link to the GlycoGene Database		 ALG2