Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affectsOrgan |
gptkb:skeletal_muscle
gptkb:kidney eye pancreas |
| gptkbp:characterizedBy |
accumulation of cystine in lysosomes
|
| gptkbp:firstDescribed |
1943
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
nephropathic cystinosis
|
| gptkbp:ICD-10_code |
E72.04
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D003556
|
| gptkbp:mutationAssociatedWith |
CTNS gene
|
| gptkbp:OMIM |
219800
|
| gptkbp:onset |
infancy
|
| gptkbp:otherName |
infantile cystinosis
|
| gptkbp:symptom |
gptkb:rickets
renal failure photophobia growth retardation polydipsia polyuria renal Fanconi syndrome |
| gptkbp:treatment |
kidney transplantation
cysteamine |
| gptkbp:bfsParent |
gptkb:Cystagon
gptkb:Procysbi |
| gptkbp:bfsLayer |
8
|