congenital disorders of glycosylation

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:inborn_error_of_metabolism gptkb:disease
gptkbp:affects	gptkb:histone_modification glycosylation multiple organ systems lipid modification
gptkbp:alsoKnownAs	gptkb:CDG
gptkbp:category	gptkb:genetic_disorder gptkb:metabolic_disorder
gptkbp:causedBy	gptkb:genetic_disorder gptkb:enzyme_deficiency
gptkbp:complication	gptkb:intellectual_disability gptkb:liver_disease failure to thrive neurological impairment coagulopathy
gptkbp:diagnosedBy	genetic testing transferrin isoelectric focusing
gptkbp:firstDescribed	1980
gptkbp:hasOrphanetID	ORPHA:199
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
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	congenital disorders of glycosylation