glycogen storage disease type VII
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
inborn error of metabolism |
| gptkbp:affects |
gptkb:skeletal_muscle
erythrocytes |
| gptkbp:alsoKnownAs |
gptkb:Tarui_disease
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:enzymeDeficiency |
gptkb:phosphofructokinase
|
| gptkbp:firstDescribed |
1965
Yasutomi Tarui |
| https://www.w3.org/2000/01/rdf-schema#label |
glycogen storage disease type VII
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
PFKM gene
|
| gptkbp:OMIM |
232800
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:anemia
exercise intolerance muscle weakness myoglobinuria |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:PRKAG3
|
| gptkbp:bfsLayer |
7
|