congenital disorders of glycosylation
GPTKB entity
Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
inborn error of metabolism |
| gptkbp:affects |
histone modification
glycosylation multiple organ systems lipid modification |
| gptkbp:alsoKnownAs |
gptkb:CDG
|
| gptkbp:category |
genetic disorder
metabolic disorder |
| gptkbp:causedBy |
genetic disorder
enzyme deficiency |
| gptkbp:complication |
gptkb:liver_disease
intellectual disability failure to thrive neurological impairment coagulopathy |
| gptkbp:diagnosedBy |
genetic testing
transferrin isoelectric focusing |
| gptkbp:firstDescribed |
1980
|
| gptkbp:hasOrphanetID |
ORPHA:199
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital disorders of glycosylation
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
gptkb:D020152
|
| gptkbp:OMIM |
212065
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
CDG type I
CDG type II MPI-CDG PMM2-CDG |
| gptkbp:symptom |
hypotonia
retinitis pigmentosa seizures failure to thrive developmental delay liver dysfunction coagulopathy |
| gptkbp:treatment |
supportive care
mannose supplementation (for MPI-CDG) |
| gptkbp:bfsParent |
gptkb:SEC61B
gptkb:N-glycosylation gptkb:GOSR1 gptkb:CAD_gene gptkb:NGBR |
| gptkbp:bfsLayer |
8
|