Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00382 (Tree)
Name Muscular dystrophy, limb-girdle, type 2I
Aliases FKRP-CDG (cong. muscular dystrophy spectrum)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)
Limb-girdle muscular dystrophy type 2I (LGMD2I)
Disease name:　Preferred Term MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
Disease name:　Preferred Term ABBR MDDGC5
Disease name:　Synonyms (from OMIM and MeSH) Limb-girdle muscular dystrophy type 2I
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
LGMD2I
UMLS CUI C1846672
UMLS SAB MeSH (SCR)
UMLS CODE C564612
OMIM DATA:　Gene FKRP
OMIM DATA:　Gene Number 606596
OMIM DATA:　Phenotype Number 607155
Symptoms, signs and abnormal clinical and laboratory findings
  • Cardiovascular Diseases
  • Heart Diseases
  • Kyphosis
  • Lung Diseases
  • Mental Disorders Diagnosed in Childhood
  • Mobility Limitation
  • Motor Skills Disorders
  • Muscle Hypotonia
  • Muscle Weakness
  • Muscular Atrophy (Muscle wasting)
  • Muscular Diseases
  • Neuromuscular Manifestations
  • Respiration Disorders
  • Respiratory Insufficiency
  • Respiratory Tract Diseases
  • Signs and Symptoms
  • Spinal Curvatures
  • Cardiomyopathies
  • Lordosis
  • Muscular Disorders, Atrophic
  • Muscular Dystrophies
  • Scoliosis
References
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • 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.
  • 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.
  • 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 (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • 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.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 107
GGDB (Gene Symbol)
Link to the GlycoGene Database		 FKRP