Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
metabolic disorder |
| gptkbp:affects |
gptkb:kidney
liver |
| gptkbp:alsoKnownAs |
gptkb:glycogen_storage_disease_type_I
GSD I |
| gptkbp:causedBy |
gptkb:glucose-6-phosphatase_deficiency
|
| gptkbp:complication |
gptkb:hepatic_adenoma
gptkb:bone kidney disease gout growth retardation |
| gptkbp:diagnosedBy |
liver biopsy
genetic testing blood tests |
| gptkbp:firstDescribed |
gptkb:Edgar_von_Gierke
|
| gptkbp:gene |
gptkb:G6PC
|
| https://www.w3.org/2000/01/rdf-schema#label |
von Gierke disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17q21
|
| gptkbp:OMIM |
232200
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis hyperuricemia |
| gptkbp:treatment |
allopurinol
frequent feeding uncooked cornstarch lipid-lowering agents |
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_I
gptkb:G6PC_gene |
| gptkbp:bfsLayer |
7
|