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
|