| Concept UI |
CON00360 (Tree)
|
| Name |
SLC35C1-CDG
|
| Aliases |
Congenital disorder of glycosylation, type IIc
Rambam Hasharon syndrome
CDG-IIc
Leukocyte adhesion deficiency, type 2
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
|
| Disease name: Preferred Term ABBR |
CDG2C
|
| Disease name: Synonyms (from OMIM and MeSH) |
CDG IIc
CDGIIc
Congenital disorder of glycosylation, type 2C
LAD2
LEUKOCYTE ADHESION DEFICIENCY, TYPE II
Leukocyte adhesion deficiency, type 2
RAMBAM-HASHARON SYNDROME
RHS
Rambam Hasharon syndrome
|
| UMLS CUI |
C0398739
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C535755
|
| OMIM DATA: Gene |
SLC35C1
|
| OMIM DATA: Gene Number |
605881
|
| OMIM DATA: Phenotype Number |
266265
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Developmental
- Craniofacial Abnormalities
- Developmental Disabilities
- Dwarfism (Short stature disorder)
- Ear Diseases
- Growth Disorders
- Intellectual Disability (Mental Retardation)
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Microcephaly
- Muscle Hypotonia
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Manifestations
- Otitis
- Pathologic Processes
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Stomatognathic System Abnormalities
- Epilepsy
- Failure to Thrive
- Immune System Diseases
- Immunologic Deficiency Syndromes
- Leukocyte Disorders
- Leukocyte-Adhesion Deficiency Syndrome
- Leukocytosis
- Psychomotor Disorders
|
|
References
|
- 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.
- 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. Table 1 Proposed nomenclature for CDG.
- 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 (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.
- Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- 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.
- 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.
- 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 (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
50
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
SLC35C1
|