| Concept UI |
CON00358 (Tree)
|
| Name |
MGAT2-CDG
|
| Aliases |
CDG-IIa
Congenital disorder of glycosylation, type IIa
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
|
| Disease name: Preferred Term ABBR |
CDG2A
|
| Disease name: Synonyms (from OMIM and MeSH) |
ALKURAYA SYNDROME
CDGIIa
MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH
Congenital disorder of glycosylation type 2A
CDG IIa
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY
CDGS2, FORMERLY
|
| UMLS CUI |
C2931008
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C535752
|
| OMIM DATA: Gene |
MGAT2
|
| OMIM DATA: Gene Number |
602616
|
| OMIM DATA: Phenotype Number |
212066
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases
- Craniofacial Abnormalities
- Developmental Disabilities
- Diarrhea
- Dwarfism (Short stature disorder)
- Feeding and Eating Disorders of Childhood
- Growth Disorders
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hematologic Diseases
- Limb Deformities, Congenital
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Muscular Atrophy (Muscle wasting)
- Musculoskeletal Abnormalities
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Manifestations
- Osteoporosis
- Pathologic Processes
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Signs and Symptoms, Digestive
- Spinal Curvatures
- Spinal Diseases
- Stomatognathic System Abnormalities
- Blood Coagulation Disorders
- Epilepsy
- Failure to Thrive
- Gonadal Disorders
- Hemorrhage (Bleeding)
- Psychomotor Disorders
- Puberty, Delayed
|
|
References
|
- 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.
- 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.
- 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.
- 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.
- Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- 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.
- 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 |
48
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
MGAT2
|