Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:neurodegenerative_disease
gptkb:prion_disease gptkb: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
|
| 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
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
fatal familial insomnia
|