Niemann-Pick disease type C

GPTKB entity

Statements (33)
Predicate Object
gptkbp:instanceOf genetic disorder
lysosomal storage disease
gptkbp:category neurodegenerative disease
metabolic disorder
gptkbp:complication premature death
progressive neurological decline
gptkbp:diagnosedBy genetic testing
filipin staining
gptkbp:firstDescribed 1914
gptkbp:hasOrphanetID 646
https://www.w3.org/2000/01/rdf-schema#label Niemann-Pick disease type C
gptkbp:ICD-10_code E75.2
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D009540
gptkbp:mutationAssociatedWith gptkb:NPC1_gene
gptkb:NPC2_gene
gptkbp:namedAfter gptkb:Albert_Niemann
gptkb:Ludwig_Pick
gptkbp:OMIM 257220
gptkbp:onset childhood
adolescence
adulthood
gptkbp:prevalence rare
gptkbp:symptom gptkb:dementia
jaundice
seizures
hepatosplenomegaly
ataxia
vertical supranuclear gaze palsy
gptkbp:treatment gptkb:miglustat
supportive care
gptkbp:bfsParent gptkb:miglustat_(for_Type_C)
gptkbp:bfsLayer 6