Glycogen Storage Disease Type IX
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Metabolic_disorder
gptkb:Glycogen_storage_disease |
| gptkbp:affects |
Liver
Muscle |
| gptkbp:causedBy |
gptkb:Phosphorylase_kinase_deficiency
|
| gptkbp:firstDescribed |
1960s
|
| gptkbp:gene |
gptkb:PHKA2
gptkb:PHKB gptkb:PHKG2 |
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
X-linked recessive
Autosomal recessive |
| gptkbp:OMIM |
306000
|
| gptkbp:otherName |
gptkb:GSD_IX
gptkb:Phosphorylase_kinase_deficiency |
| gptkbp:symptom |
Growth retardation
Hepatomegaly Mild hypoglycemia |
| gptkbp:treatment |
Dietary management
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen Storage Disease Type IX
|