|
gptkbp:instanceOf
|
gptkb:disease
gptkb:lysosomal_storage_disorder
|
|
gptkbp:affects
|
adults
children
cholesterol metabolism
sphingomyelin metabolism
|
|
gptkbp:category
|
gptkb:genetic_disorder
gptkb:metabolic_disorder
gptkb:neurodegenerative_disease
|
|
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
|
|
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
|
gptkb:interstitial_lung_disease
jaundice
failure to thrive
hepatosplenomegaly
ataxia
neurological deterioration
|
|
gptkbp:treatment
|
gptkb:miglustat_(for_Type_C)
supportive care
bone marrow transplant (experimental)
|
|
gptkbp:bfsParent
|
gptkb:lysosome
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Niemann-Pick disease
|