HD
E730389
HD is an inherited neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms caused by a CAG repeat expansion in the huntingtin gene.
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| Huntington's disease | 0 |
Statements (49)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal dominant disease
ⓘ
inherited disorder ⓘ neurodegenerative disease ⓘ |
| affectsChromosome | chromosome 4 ⓘ |
| affectsGene | HTT NERFINISHED ⓘ |
| affectsRegion | basal ganglia ⓘ |
| affectsSystem | central nervous system ⓘ |
| hasAbbreviation | HD NERFINISHED ⓘ |
| hasBiomarker | expanded CAG repeat number in HTT ⓘ |
| hasCategory |
movement disorder
ⓘ
neurogenetic disorder ⓘ trinucleotide repeat disorder ⓘ |
| hasCause |
CAG trinucleotide repeat expansion in the HTT gene
ⓘ
expanded CAG repeat in the huntingtin gene ⓘ |
| hasCure | no known cure ⓘ |
| hasDiagnosticTest | molecular genetic testing of HTT CAG repeat length ⓘ |
| hasEponym | George Huntington NERFINISHED ⓘ |
| hasFeature | genetic anticipation with earlier onset in successive generations ⓘ |
| hasGeneticMechanism | CAG repeat expansion above normal threshold ⓘ |
| hasManagement | multidisciplinary care ⓘ |
| hasModeOfTransmission | vertical transmission ⓘ |
| hasOnset | usually in mid-adulthood ⓘ |
| hasPathogenesis | toxic gain of function of mutant huntingtin protein ⓘ |
| hasPathology |
neurodegeneration of caudate nucleus
ⓘ
neurodegeneration of putamen ⓘ neurodegeneration of striatum ⓘ |
| hasPenetrance | high penetrance ⓘ |
| hasPrognosis | progressive and ultimately fatal ⓘ |
| hasPsychiatricComponent | true ⓘ |
| hasRiskFactor | family history of Huntington's disease ⓘ |
| hasSymptom |
apathy
ⓘ
chorea ⓘ cognitive decline ⓘ dementia ⓘ depression ⓘ dystonia ⓘ gait disturbance ⓘ impaired voluntary movements ⓘ irritability ⓘ obsessive-compulsive symptoms ⓘ progressive motor dysfunction ⓘ psychiatric symptoms ⓘ psychosis ⓘ |
| hasTreatment | symptomatic treatment only ⓘ |
| hasTypicalCourse | gradual progression over 10 to 25 years ⓘ |
| hasVariant | juvenile-onset Huntington's disease NERFINISHED ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| isMonogenic | true ⓘ |
| showsAnticipation | true ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.