Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulationOf |
gptkb:glucocerebroside
|
| gptkbp:alsoKnownAs |
gptkb:non-neuronopathic_Gaucher_disease
|
| gptkbp:deficiencyCauses |
gptkb:glucocerebrosidase
|
| gptkbp:describedYear |
1882
|
| gptkbp:doesNotInvolve |
central nervous system
|
| gptkbp:firstDescribed |
gptkb:Philippe_Gaucher
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type 1 Gaucher disease
|
| 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:onset |
childhood or adulthood
|
| gptkbp:prevalence |
most common among Ashkenazi Jews
|
| gptkbp:symptom |
gptkb:anemia
fatigue hepatosplenomegaly bone pain thrombocytopenia bone fractures |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Gaucher_disease
|
| gptkbp:bfsLayer |
6
|