Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
glycogen storage disease |
| gptkbp:affects |
gptkb:skeletal_muscle
heart liver |
| gptkbp:alsoKnownAs |
gptkb:GSD_IV
gptkb:glycogen_storage_disease_type_IV |
| gptkbp:causedBy |
mutation in GBE1 gene
|
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
gptkb:Dorothy_Hansine_Andersen
1956 |
| gptkbp:hasOrphanetID |
ORPHA:358
|
| https://www.w3.org/2000/01/rdf-schema#label |
Andersen disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
232500
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor without treatment
|
| gptkbp:symptom |
cirrhosis
hypotonia muscle weakness failure to thrive hepatosplenomegaly liver dysfunction |
| gptkbp:treatment |
liver transplantation
|
| gptkbp:bfsParent |
gptkb:Glycogen_Branching_Enzyme_Deficiency
|
| gptkbp:bfsLayer |
6
|