Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00401 (Tree)
Name Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)
Aliases Galactosyltransferase Deficiency
Tn syndrome (SOMATIC MUTATION)
Disease name:　Preferred Term TN POLYAGGLUTINATION SYNDROME
Disease name:　Preferred Term ABBR TNPS
Disease name:　Synonyms (from OMIM and MeSH) GALACTOSYLTRANSFERASE DEFICIENCY
UMLS CUI C0272137
UMLS SAB MeSH (SCR)
UMLS CODE C562719
OMIM DATA:　Gene C1GALT1C1
OMIM DATA:　Gene Number 300611
OMIM DATA:　Phenotype Number 300622
Symptoms, signs and abnormal clinical and laboratory findings
  • Blood Platelet Disorders
  • Thrombocytopenia
  • Anemia, Hemolytic
  • Anemia, Hemolytic, Autoimmune
  • Autoimmune Diseases
  • Leukocyte Disorders
  • Leukopenia
References
  • 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.
  • 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.
  • Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • 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.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • 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.
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • 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.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
GGDB (Gene Symbol)
Link to the GlycoGene Database		 C1GALT1C1