Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
genetic disorder |
| gptkbp:affects |
gptkb:basal_ganglia
gptkb:cerebral_cortex |
| gptkbp:alsoKnownAs |
gptkb:Huntington's_chorea
|
| gptkbp:casualties |
yes
|
| gptkbp:causedBy |
mutation in HTT gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:George_Huntington
1872 |
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huntington disease
|
| gptkbp:ICD-10_code |
G10
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:involvesProtein |
huntingtin
|
| gptkbp:juvenileForm |
yes
|
| gptkbp:juvenileOnsetAge |
before 20 years
|
| gptkbp:juvenileSymptoms |
bradykinesia
rigidity seizures |
| gptkbp:lifeExpectancyAfterOnset |
10-30 years
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:MeSH_ID |
D006816
|
| gptkbp:mutationAssociatedWith |
CAG trinucleotide repeat expansion
|
| gptkbp:OMIM |
143100
|
| gptkbp:onset |
30-50 years
|
| gptkbp:prevalence |
3-7 per 100,000 people of European descent
|
| gptkbp:progression |
progressive
|
| gptkbp:researchInterest |
stem cell therapy
gene silencing neuroprotective agents |
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:dementia
gptkb:depression cognitive decline anxiety paranoia sleep disturbances weight loss difficulty swallowing apathy psychosis irritability chorea impaired coordination involuntary movements obsessive-compulsive behaviors personality changes psychiatric symptoms speech difficulties |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Huntington's_disease
|
| gptkbp:bfsLayer |
6
|