Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulationOf |
gptkb:glucocerebroside
|
| gptkbp:deficiencyCauses |
gptkb:glucocerebrosidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:doesNotInvolve |
central nervous system
|
| gptkbp:firstDescribed |
gptkb:Philippe_Gaucher
1882 |
| gptkbp:hasNo |
primary neurological involvement
|
| gptkbp:hasOrphanetID |
ORPHA355
|
| https://www.w3.org/2000/01/rdf-schema#label |
Gaucher disease type 1
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mostCommonTypeOf |
gptkb:Gaucher_disease
|
| gptkbp:mutationAssociatedWith |
gptkb:GBA_gene
|
| gptkbp:OMIM |
230800
|
| gptkbp:prevalence |
most common in Ashkenazi Jews
|
| gptkbp:symptom |
gptkb:anemia
fatigue hepatosplenomegaly bone pain thrombocytopenia easy bruising bone fractures |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Cerezyme
gptkb:Zavesca gptkb:Cerdelga gptkb:Vpriv |
| gptkbp:bfsLayer |
7
|