Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00380 (Tree)
Name Cardiomyopathy, dilated, 1X
Aliases FKTN-CDG (cong. muscular dystrophy spectrum)
Cardiomyopathy, dilated, 1X (CMD1X)
Dilated cardiomyopathy with mild or no proximal muscle weakness
Disease name:　Preferred Term CARDIOMYOPATHY, DILATED, 1X
Disease name:　Preferred Term ABBR CMD1X
Disease name:　Synonyms (from OMIM and MeSH) CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS
Dilated cardiomyopathy with mild or no proximal muscle weakness
UMLS CUI C1969024
UMLS SAB MeSH (SCR)
UMLS CODE C566907
OMIM DATA:　Gene FKTN
OMIM DATA:　Gene Number 607440
OMIM DATA:　Phenotype Number 611615
Symptoms, signs and abnormal clinical and laboratory findings
  • Cardiomegaly
  • Cardiovascular Diseases
  • Heart Diseases
  • Mobility Limitation
  • Muscle Hypotonia
  • Muscle Weakness
  • Muscular Atrophy (Muscle wasting)
  • Muscular Diseases
  • Neuromuscular Manifestations
  • Signs and Symptoms
  • Cardiomyopathies
  • Muscular Disorders, Atrophic
  • Muscular Dystrophies
References
  • 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.
  • 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.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • 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. Table 1 Proposed nomenclature for CDG.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 105
GGDB (Gene Symbol)
Link to the GlycoGene Database		 FCMD