glucocerebrosidase deficiency
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
lysosomal function
|
| gptkbp:alsoKnownAs |
gptkb:GCase_deficiency
|
| gptkbp:associatedWith |
gptkb:Gaucher_disease
|
| gptkbp:cause |
accumulation of glucocerebroside
|
| gptkbp:causedBy |
mutation in GBA gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| https://www.w3.org/2000/01/rdf-schema#label |
glucocerebrosidase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D020154
|
| gptkbp:OMIM |
606463
|
| gptkbp:prevalence |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:symptom |
gptkb:anemia
hepatosplenomegaly bone pain thrombocytopenia |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Type_3_Gaucher's_disease
|
| gptkbp:bfsLayer |
6
|