| Concept UI |
CON00345 (Tree)
|
| Name |
ALG6-CDG
|
| Aliases |
CDG-Ic
Congenital disorder of glycosylation, type Ic
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
|
| Disease name: Preferred Term ABBR |
CDG1C
|
| Disease name: Synonyms (from OMIM and MeSH) |
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY
CDGS5, FORMERLY
CDG Ic
CDGIc
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY
Congenital disorder of glycosylation type 1C
|
| UMLS CUI |
C1864178
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C535741
|
| OMIM DATA: Gene |
ALG6
|
| OMIM DATA: Gene Number |
604566
|
| OMIM DATA: Phenotype Number |
603147
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Ataxia
- Brain Diseases
- Developmental Disabilities
- Dyskinesias
- Endocrine System Diseases
- Hematologic Diseases
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Language Disorders
- Limb Deformities, Congenital
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Muscle Hypotonia
- Myoclonus
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Manifestations
- Ocular Motility Disorders
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Speech Disorders
- Adrenogenital Syndrome
- Blood Coagulation Disorders
- Brachydactyly
- Cerebellar Diseases
- Disorders of Sex Development
- Epilepsy
- Gonadal Disorders
- Hyperandrogenism
- Hyperopia
- Intestinal Diseases
- Protein-Losing Enteropathies
- Pseudotumor Cerebri
- Psychomotor Disorders
- Puberty, Delayed
- Refractive Errors
- Strabismus
- Thrombosis
- Venous Thrombosis
- Virilism
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References
|
- 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.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways.
- 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.
- 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.
- Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- 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.
- 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.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
- 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.
- Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628-1641.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
37
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
ALG6
|