Niemann-Pick disease

GPTKB entity

Statements (62)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:affects children and adults
lipid metabolism
gptkbp:associated_with gptkb:Cardiology
gptkb:Oncology
gptkb:anemia
gptkb:neurodegenerative_diseases
ascites
decreased quality of life
fatigue
awareness campaigns
chronic pain
jaundice
metabolic syndrome
seizures
hearing loss
ataxia
visual impairment
psychological issues
increased risk of infections
social withdrawal
developmental delays
failure to thrive
thrombocytopenia
neurodegeneration
behavioral problems
dysphagia
hypotonia
gastrointestinal issues
palliative care needs
family support needs
hepatosplenomegaly
cholesterol accumulation
sphingomyelin accumulation
genetic counseling needs
research funding needs
cherry-red spot in the eye
motor skill problems
gptkbp:caused_by mutations in the SMPD1 gene
gptkbp:clinical_trial ongoing
gptkbp:diagnosis blood tests
genetic testing
biopsy
gptkbp:first_described_by in 1914
https://www.w3.org/2000/01/rdf-schema#label Niemann-Pick disease
gptkbp:inherits_from autosomal recessive
gptkbp:lifespan varies by type
gptkbp:named_after gptkb:Frederick_Pick
gptkb:Albert_Niemann
gptkbp:prevalence rare disease
gptkbp:research_focus gptkb:gene_therapy
new treatments
gptkbp:symptoms enlarged liver
enlarged spleen
neurological problems
gptkbp:treatment gptkb:Biology
supportive care
gptkbp:type_of Type A
Type B
Type C
gptkbp:bfsParent gptkb:disease
gptkbp:bfsLayer 4