Glycogen Storage Disease Type VI
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Glycogen_storage_disease
Metabolic disorder |
| gptkbp:affects |
liver
|
| gptkbp:alsoKnownAs |
gptkb:Hers_disease
|
| gptkbp:causedBy |
deficiency of liver phosphorylase
|
| gptkbp:complication |
cirrhosis (rare)
liver fibrosis |
| gptkbp:firstDescribed |
1959
|
| gptkbp:gene |
gptkb:PYGL
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen Storage Disease Type VI
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
232700
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hepatomegaly
growth retardation mild hypoglycemia |
| gptkbp:treatment |
dietary management
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease
|
| gptkbp:bfsLayer |
6
|