congenital disorder of glycosylation
GPTKB entity
Statements (39)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
inborn error of metabolism |
| gptkbp:affects |
glycosylation
multiple organ systems N-linked glycosylation O-linked glycosylation |
| gptkbp:causedBy |
genetic disorder
enzyme deficiency |
| gptkbp:complication |
gptkb:liver_disease
intellectual disability failure to thrive neurological impairment coagulation disorders |
| gptkbp:firstDescribed |
1980
|
| gptkbp:hasDiagnosticMethod |
genetic testing
transferrin isoelectric focusing |
| gptkbp:hasOrphanetID |
ORPHA:35847
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital disorder of glycosylation
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D020754
|
| gptkbp:OMIM |
212065
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
CDG type II
CDG type Ia CDG type Ib |
| gptkbp:symptom |
hypotonia
retinitis pigmentosa peripheral neuropathy seizures failure to thrive developmental delay liver dysfunction coagulopathy |
| gptkbp:synonym |
gptkb:CDG
|
| gptkbp:treatment |
supportive care
mannose supplementation (for CDG-Ib) |
| gptkbp:bfsParent |
gptkb:SEC61A1
gptkb:Sec61_alpha |
| gptkbp:bfsLayer |
8
|