Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00367 (Tree)
Name COG4-CDG
Aliases CDG-IIj
Congenital disorder of glycosylation, type IIj
Disease name:　Preferred Term CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
Disease name:　Preferred Term ABBR CDG2J
Disease name:　Synonyms (from OMIM and MeSH) CDGIIj
Congenital disorder of glycosylation type 2J
CDG IIj
UMLS CUI C3150736
OMIM DATA:　Gene COG4
OMIM DATA:　Gene Number 606976
OMIM DATA:　Phenotype Number 613489
Symptoms, signs and abnormal clinical and laboratory findings
  • Ataxia
  • Blood Platelet Disorders
  • Central Nervous System Diseases
  • Craniofacial Abnormalities
  • Developmental Disabilities
  • Diarrhea
  • Dyskinesias
  • Feeding and Eating Disorders of Childhood
  • Growth Disorders
  • Hematologic Diseases
  • Hepatomegaly
  • Heredodegenerative Disorders, Nervous System
  • Language Disorders
  • Liver Diseases
  • Lymphatic Diseases
  • Malformations of Cortical Development
  • Maxillofacial Abnormalities
  • Mental Disorders Diagnosed in Childhood
  • Microcephaly
  • Motor Skills Disorders
  • Movement Disorders
  • Muscle Hypotonia
  • Neurobehavioral Manifestations
  • Neurodegenerative Diseases
  • Neurologic Manifestations
  • Neuromuscular Manifestations
  • Pathologic Processes
  • Respiratory Tract Diseases
  • Respiratory Tract Infections
  • Seizures
  • Signs and Symptoms
  • Signs and Symptoms, Digestive
  • Speech Disorders
  • Splenic Diseases
  • Stomatognathic System Abnormalities
  • Thrombocytopenia
  • Blood Coagulation Disorders
  • Coagulation Protein Disorders (Blood Coagulation Factor Deficiencies)
  • Epilepsy
  • Failure to Thrive
  • Liver Cirrhosis
  • Nystagmus, Congenital
  • Nystagmus, Pathologic
  • Psychomotor Disorders
  • Reflex, Abnormal
  • Sepsis
  • Systemic Inflammatory Response Syndrome
References
  • 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.
  • 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.
  • 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.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • 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.
  • 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. Table 1 CDG: Molecular Genetics.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.