GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00376 : 'POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)' 'Walker-Warburg syndrome' (Integration tree) (Synthesis tree)

Common disease names

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1)
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2)
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
Walker-Warburg syndrome (WWS)

Full list of disease names

Preferred Term	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 and TYPE A, 2
Preferred Term ABBR	MDDGA1 and MDDGA2
Synonyms (from OMIM and MeSH)	CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME COD-MD SYNDROME HARD SYNDROME HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED and POMT2-RELATED

UMLS CUI

C0265221,C3150411

UMLS SAB

MeSH

UMLS CODE

D058494

OMIM DATA

Gene	POMT1 POMT2
Gene Number	607423 607439
Phenotype Number	236670 613150

References

Concept

  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.
  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways.
  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.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of 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.
  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.

Relations

  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.
  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.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  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.

GDGDB

(102)