Phosphorylase kinase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
glycogen storage disease |
| gptkbp:affects |
gptkb:skeletal_muscle
liver |
| gptkbp:alsoKnownAs |
Glycogen storage disease type IX
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1966
|
| https://www.w3.org/2000/01/rdf-schema#label |
Phosphorylase kinase deficiency
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:MeSH_ID |
D006022
|
| gptkbp:mutationAssociatedWith |
PHKA1 gene
PHKA2 gene PHKB gene PHKG2 gene |
| gptkbp:OMIM |
306000
|
| gptkbp:symptom |
hepatomegaly
growth retardation mild hypoglycemia |
| gptkbp:treatment |
dietary management
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_IX
|
| gptkbp:bfsLayer |
7
|