GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00381 : 'Muscular dystrophy, congenital, type 1C' (Integration tree) (Synthesis tree)

Common disease names

Congenital muscular dystrophy type 1C (CMD1C)
FKRP-CDG (cong. muscular dystrophy spectrum)
Muscular dystrophy, congenital, type 1C (MDC1C)
Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)

Full list of disease names

Preferred Term	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5
Preferred Term ABBR	MDDGB5
Synonyms (from OMIM and MeSH)	CMD1C Congenital muscular dystrophy type 1C MDC1C MUSCULAR DYSTROPHY, CONGENITAL, 1C MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED Muscular dystrophy, congenital, type 1C

UMLS CUI

C1847759

UMLS SAB

MeSH (SCR)

UMLS CODE

C564691

OMIM DATA

Gene	FKRP
Gene Number	606596
Phenotype Number	606612

References

Concept

  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.
  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

  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  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

(106)