acute neuronopathic Gaucher's disease
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:lysosomal_storage_disorder gptkb:type_2_Gaucher's_disease |
| gptkbp:affectsOrgan |
brain
liver spleen |
| gptkbp:alternativeName |
gptkb:Gaucher_disease_type_2
gptkb:infantile_Gaucher's_disease |
| gptkbp:causedBy |
deficiency of glucocerebrosidase
|
| gptkbp:firstDescribed |
early 20th century
|
| gptkbp:hasEnzymeDeficiency |
gptkb:glucocerebrosidase
|
| gptkbp:hasGeneticAlteration |
gptkb:GBA_gene
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
high
|
| gptkbp:OMIM |
230900
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
gptkb:strabismus
spasticity seizures failure to thrive hepatosplenomegaly neurological deterioration opisthotonus |
| gptkbp:treatment |
supportive care
palliative care |
| gptkbp:bfsParent |
gptkb:Type_2_Gaucher's_disease
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
acute neuronopathic Gaucher's disease
|