Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder |
| gptkbp:affects |
adults
children cholesterol metabolism sphingomyelin metabolism |
| gptkbp:category |
neurodegenerative disease
genetic disorder metabolic disorder |
| gptkbp:causedBy |
mutation in NPC1 gene
mutation in NPC2 gene mutation in SMPD1 gene |
| gptkbp:complication |
respiratory failure
liver failure death in childhood (Type A) progressive neurological decline (Type C) |
| gptkbp:diagnosedBy |
genetic testing
biopsy enzyme assay |
| gptkbp:firstDescribed |
gptkb:Albert_Niemann
gptkb:Ludwig_Pick |
| gptkbp:hasType |
gptkb:Type_A
gptkb:Type_B gptkb:Type_C gptkb:Type_D |
| https://www.w3.org/2000/01/rdf-schema#label |
Niemann-Pick disease
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D009540
|
| gptkbp:namedAfter |
gptkb:Albert_Niemann
gptkb:Ludwig_Pick |
| gptkbp:OMIM |
257200
|
| gptkbp:prevalence |
rare
|
| gptkbp:registration |
Niemann-Pick Disease Registry
|
| gptkbp:supportersGroup |
International Niemann-Pick Disease Alliance
National Niemann-Pick Disease Foundation |
| gptkbp:symptom |
jaundice
failure to thrive hepatosplenomegaly ataxia neurological deterioration interstitial lung disease |
| gptkbp:treatment |
gptkb:miglustat_(for_Type_C)
supportive care bone marrow transplant (experimental) |
| gptkbp:bfsParent |
gptkb:lysosome
gptkb:Lysosomes |
| gptkbp:bfsLayer |
6
|