Statements (33)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
neurodegenerative disease prion disease |
gptkbp:affects |
thalamus
|
gptkbp:causedBy |
mutation in PRNP gene
|
gptkbp:duration |
months to a few years
|
gptkbp:eponymOf |
gptkb:Lugaresi_disease
|
gptkbp:firstDescribed |
1986
|
gptkbp:frequency |
extremely rare
|
gptkbp:hasAverageOnsetAge |
midlife
|
gptkbp:hasOrphanetID |
ORPHA:399
|
https://www.w3.org/2000/01/rdf-schema#label |
fatal familial insomnia
|
gptkbp:ICD-10_code |
G31.8
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:MeSH_ID |
D020239
|
gptkbp:OMIM |
600072
|
gptkbp:pathology |
prion protein misfolding
|
gptkbp:prognosis |
fatal
|
gptkbp:relatedTo |
gptkb:Creutzfeldt-Jakob_disease
gptkb:Gerstmann-Sträussler-Scheinker_syndrome gptkb:sporadic_fatal_insomnia |
gptkbp:symptom |
gptkb:dementia
weight loss autonomic dysfunction insomnia ataxia hallucinations |
gptkbp:treatment |
supportive care
no cure |
gptkbp:bfsParent |
gptkb:Creutzfeldt-Jakob_disease
gptkb:Creutzfeldt–Jakob_disease gptkb:transmissible_spongiform_encephalopathy |
gptkbp:bfsLayer |
6
|