glycogen storage disease type II
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
glycogen storage disease |
| gptkbp:affects |
gptkb:lysosomal_acid_alpha-glucosidase
|
| gptkbp:affectsOrgan |
gptkb:skeletal_muscle
heart liver |
| gptkbp:alsoKnownAs |
gptkb:Pompe_disease
|
| gptkbp:category |
rare disease
metabolic disorder |
| gptkbp:complication |
respiratory failure
cardiac failure |
| 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 |
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 |
enzyme replacement therapy
|
| gptkbp:bfsParent |
gptkb:Myozyme
gptkb:Pompe_disease |
| gptkbp:bfsLayer |
7
|