Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00361 (Tree)
Name B4GALT1-CDG
Aliases CDG-IId
Congenital disorder of glycosylation, type IId
Disease name:　Preferred Term CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
Disease name:　Preferred Term ABBR CDG2D
Disease name:　Synonyms (from OMIM and MeSH) CDG IId
Congenital disorder of glycosylation type 2D
CDGIId
UMLS CUI C1846816
UMLS SAB MeSH (SCR)
UMLS CODE C564625
OMIM DATA:　Gene B4GALT1
OMIM DATA:　Gene Number 137060
OMIM DATA:　Phenotype Number 607091
Symptoms, signs and abnormal clinical and laboratory findings
  • Brain Diseases
  • Craniofacial Abnormalities
  • Developmental Disabilities
  • Hematologic Diseases
  • Hepatomegaly
  • Hydrocephalus
  • Intracranial Hypertension
  • Liver Diseases
  • Macrocephaly
  • Malformations of Cortical Development
  • Mental Disorders Diagnosed in Childhood
  • Motor Skills Disorders
  • Muscle Hypotonia
  • Muscle Weakness
  • Muscular Diseases
  • Neuromuscular Manifestations
  • Blood Coagulation Disorders
  • Cerebellar Diseases
References
  • 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.
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • 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.
  • 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.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • 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.
  • 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.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 51
GGDB (Gene Symbol)
Link to the GlycoGene Database		 B4GALT1