Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
|
| gptkbp:affects |
gptkb:basal_ganglia
central nervous system |
| gptkbp:alsoKnownAs |
gptkb:Huntington_disease
HD |
| gptkbp:casualties |
yes
|
| gptkbp:category |
gptkb:dementia
genetic disorder rare disease movement disorder |
| gptkbp:causedBy |
mutation in HTT gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:George_Huntington
1872 |
| gptkbp:geneticTestAvailable |
yes
|
| gptkbp:hasNoCure |
yes
|
| gptkbp:hasOrphanetID |
399
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huntington's Disease
|
| gptkbp:ICD-10_code |
G10
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:MeSH_ID |
D006816
|
| gptkbp:mutationAssociatedWith |
CAG trinucleotide repeat expansion
|
| gptkbp:namedAfter |
gptkb:George_Huntington
|
| gptkbp:OMIM |
143100
|
| gptkbp:onset |
30-50 years
|
| gptkbp:prevalence |
3-7 per 100,000 people of European descent
|
| gptkbp:prognosis |
death 15-20 years after onset
|
| gptkbp:progression |
progressive
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:depression
cognitive decline memory loss anxiety weight loss difficulty swallowing dystonia irritability slurred speech chorea impaired coordination obsessive-compulsive behaviors personality changes psychiatric symptoms |
| gptkbp:treatment |
gptkb:tetrabenazine
occupational therapy physical therapy speech therapy symptomatic management antipsychotic medications |
| gptkbp:bfsParent |
gptkb:Spasmodic_Movements
|
| gptkbp:bfsLayer |
6
|