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
|