Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00381 (Tree)
Name Muscular dystrophy, congenital, type 1C
Aliases FKRP-CDG (cong. muscular dystrophy spectrum)
Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)
Congenital muscular dystrophy type 1C (CMD1C)
Muscular dystrophy, congenital, type 1C (MDC1C)
Disease name:　Preferred Term MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5
Disease name:　Preferred Term ABBR MDDGB5
Disease name:　Synonyms (from OMIM and MeSH) Congenital muscular dystrophy type 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C
Muscular dystrophy, congenital, type 1C
MDC1C
CMD1C
MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
UMLS CUI C1847759
UMLS SAB MeSH (SCR)
UMLS CODE C564691
OMIM DATA:　Gene FKRP
OMIM DATA:　Gene Number 606596
OMIM DATA:　Phenotype Number 606612
Symptoms, signs and abnormal clinical and laboratory findings
  • Brain Diseases
  • Contracture
  • Craniofacial Abnormalities
  • Feeding and Eating Disorders of Childhood
  • Intellectual Disability (Mental Retardation)
  • Joint Diseases
  • Macroglossia
  • Malformations of Cortical Development
  • Mental Disorders Diagnosed in Childhood
  • Microcephaly
  • Mobility Limitation
  • Motor Skills Disorders
  • Muscle Hypotonia
  • Muscle Weakness
  • Muscular Atrophy (Muscle wasting)
  • Muscular Diseases
  • Nervous System Diseases
  • Nervous System Malformations
  • Neurobehavioral Manifestations
  • Neuromuscular Manifestations
  • Respiration Disorders
  • Respiratory Insufficiency
  • Signs and Symptoms
  • Tongue Diseases
  • Central Nervous System Cysts
  • Cerebellar Diseases
  • Muscular Disorders, Atrophic
  • Muscular Dystrophies
References
  • 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.
  • 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, 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. Table 1 Proposed nomenclature for CDG.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • 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.
  • 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.
  • 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.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 106
GGDB (Gene Symbol)
Link to the GlycoGene Database		 FKRP