Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affectsOrgan |
gptkb:kidney
liver |
| gptkbp:alsoKnownAs |
gptkb:von_Gierke_disease
|
| gptkbp:complication |
gptkb:hepatic_adenoma
gptkb:bone kidney disease gout |
| gptkbp:firstDescribed |
gptkb:Edgar_von_Gierke
1929 |
| gptkbp:fullName |
gptkb:Glycogen_Storage_Disease_Type_I
|
| https://www.w3.org/2000/01/rdf-schema#label |
GSD1
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC37A4_gene
gptkb:G6PC_gene |
| gptkbp:OMIM |
232200
|
| gptkbp:onset |
infancy
|
| gptkbp:subspecies |
GSD1a
GSD1b |
| gptkbp:symptom |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis growth retardation hyperuricemia |
| gptkbp:treatment |
allopurinol
frequent feeding uncooked cornstarch lipid-lowering agents |
| gptkbp:bfsParent |
gptkb:G6PC_gene
|
| gptkbp:bfsLayer |
7
|