Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
cholesterol metabolism
lipid trafficking |
| gptkbp:category |
neurodegenerative disease
metabolic disorder |
| gptkbp:diagnosedBy |
genetic testing
filipin staining |
| gptkbp:firstDescribed |
1914
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
646
|
| https://www.w3.org/2000/01/rdf-schema#label |
Niemann-Pick Type C disease
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
gptkb:D020152
|
| gptkbp:mutationAssociatedWith |
gptkb:NPC1_gene
gptkb:NPC2_gene |
| gptkbp:namedAfter |
gptkb:Albert_Niemann
gptkb:Ludwig_Pick |
| gptkbp:OMIM |
257220
607625 |
| gptkbp:onset |
childhood
adolescence adulthood |
| gptkbp:symptom |
gptkb:dementia
jaundice seizures hepatosplenomegaly ataxia vertical supranuclear gaze palsy |
| gptkbp:treatment |
gptkb:miglustat
|
| gptkbp:bfsParent |
gptkb:Parseghian_Foundation
|
| gptkbp:bfsLayer |
7
|