Glycogen Storage Disease Type II

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf genetic disorder
metabolic disorder
gptkbp:affects gptkb:lysosomal_acid_alpha-glucosidase
gptkbp:affectsOrgan gptkb:skeletal_muscle
heart
liver
gptkbp:alsoKnownAs gptkb:Pompe_disease
gptkbp:category glycogen storage disease
lysosomal storage disease
gptkbp:diagnosedBy genetic testing
enzyme assay
gptkbp:firstDescribed gptkb:Johannes_C._Pompe
1932
https://www.w3.org/2000/01/rdf-schema#label Glycogen Storage Disease Type II
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 rare
gptkbp:result glycogen accumulation
gptkbp:symptom muscle weakness
cardiomegaly
respiratory difficulties
gptkbp:treatment enzyme replacement therapy
gptkbp:bfsParent gptkb:Glycogen_Storage_Disease
gptkbp:bfsLayer 6