Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulates |
glycogen in lysosomes
|
| gptkbp:affects |
heart
muscles |
| gptkbp:alsoKnownAs |
gptkb:acid_maltase_deficiency
gptkb:glycogen_storage_disease_type_II |
| gptkbp:biochemicalDefect |
deficiency of acid alpha-glucosidase
|
| gptkbp:causedBy |
mutation in GAA gene
|
| 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 |
Pompe disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
232300
|
| gptkbp:onset |
infantile
late-onset |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
muscle weakness
feeding difficulties cardiomegaly respiratory difficulties |
| gptkbp:treatment |
supportive care
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:lysosome
gptkb:Extraordinary_Measures gptkb:Lysosomes gptkb:Lysosome |
| gptkbp:bfsLayer |
6
|