Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
rare disease |
| gptkbp:affects |
children
infants |
| gptkbp:alsoKnownAs |
glycogen storage disease type XI
|
| gptkbp:characterizedBy |
gptkb:rickets
hepatomegaly growth retardation glycogen accumulation in liver and kidney proximal renal tubular dysfunction |
| gptkbp:firstDescribed |
1949
G. Fanconi H. Bickel |
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi-Bickel syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC2A2_gene
|
| gptkbp:OMIM |
227810
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
polydipsia
polyuria aminoaciduria glucosuria phosphaturia |
| gptkbp:treatment |
dietary management
vitamin D supplementation phosphate supplementation |
| gptkbp:bfsParent |
gptkb:GTR_(gene)
|
| gptkbp:bfsLayer |
7
|