Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00402 (Tree)
Name GALNT3-CDG
Aliases Tumoral calcinosis, hyperphosphatemic, familial
Disease name:　Preferred Term TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
Disease name:　Preferred Term ABBR HFTC
Disease name:　Synonyms (from OMIM and MeSH) HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME
TEUTSCHLAENDER DISEASE, FAMILIAL
HHS
MORBUS TEUTSCHLAENDER
CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA
LIPOCALCINOGRANULOMATOSIS
CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC
PHPTC
HYPEROSTOSIS WITH HYPERPHOSPHATEMIA
UMLS CUI C1876187
UMLS SAB MeSH (SCR)
UMLS CODE C566870
OMIM DATA:　Gene GALNT3
OMIM DATA:　Gene Number 601756
OMIM DATA:　Phenotype Number 211900
Symptoms, signs and abnormal clinical and laboratory findings
  • Skin Abnormalities
  • Skin Diseases
  • Calcinosis
  • Calcium Metabolism Disorders
  • Dental Enamel Hypoplasia
  • Hyperphosphatemia
  • Phosphorus Metabolism Disorders
  • Tooth Abnormalities
  • Vascular Calcification
References
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • 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.
  • 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.
  • 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.
  • 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 (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. Table 1 Diseases of glycosylation.
  • 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. Table 2 Defects in protein O-glycosylation.
  • Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
  • 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.
  • 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.
GGDB (Gene Symbol)
Link to the GlycoGene Database		 GALNT3