glycogen storage disease type II

URI: https://gptkb.org/entity/glycogen_storage_disease_type_II
GPTKB entity
Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkb:glycogen_storage_disease
gptkbp:affects gptkb:lysosomal_acid_alpha-glucosidase
gptkbp:affectsOrgan gptkb:skeletal_muscle
heart
liver
gptkbp:alsoKnownAs gptkb:Pompe_disease
gptkbp:category gptkb:metabolic_disorder
gptkb:rare_disease
gptkbp:complication respiratory failure
cardiac failure
gptkbp:diagnosedBy genetic testing
enzyme assay
gptkbp:firstDescribed gptkb:Johannes_C._Pompe
1932
gptkbp:ICD-10_code E74.0
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:GAA_gene
gptkbp:OMIM 232300
gptkbp:onset infantile
late-onset
gptkbp:prevalence 1 in 40,000
gptkbp:result glycogen accumulation
gptkbp:subspecies infantile-onset Pompe disease
late-onset Pompe disease
gptkbp:symptom muscle weakness
cardiomegaly
respiratory difficulties
gptkbp:treatment gptkb:enzyme_replacement_therapy
gptkbp:bfsParent gptkb:Myozyme
gptkb:Pompe_disease
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label glycogen storage disease type II