GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00369 : 'Oligosaccharyltransferase TUSC3 subunit defect' 'TUSC3-CDG' (Integration tree) (Synthesis tree)

Common disease names

Mental retardation, autosomal recessive 22
Mental retardation, autosomal recessive 7 (MRT7)
Oligosaccharyltransferase TUSC3 subunit defect
TUSC3-CDG

Full list of disease names

Preferred Term	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
Preferred Term ABBR	MRT7
Synonyms (from OMIM and MeSH)	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 MRT22

UMLS CUI

C1970197

OMIM DATA

Gene	TUSC3
Gene Number	601385
Phenotype Number	611093

References

Concept

  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. Table 1 Defects in protein N-glycosylation.
  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.
  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.

Relations

  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  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.
  Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  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.
  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.