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.

All labels observed (1)

Label Occurrences
HD canonical 2

How this entity was disambiguated

Statements (49)

Predicate Object
instanceOf autosomal dominant disease ⓘ
inherited disorder ⓘ
neurodegenerative disease ⓘ
affectsChromosome chromosome 4 ⓘ
affectsGene HTT ⓘ
affectsRegion basal ganglia ⓘ
affectsSystem central nervous system ⓘ
hasAbbreviation HD ⓘ
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 ⓘ
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 ⓘ
linked to: Huntington's chorea
inheritancePattern autosomal dominant ⓘ
isMonogenic true ⓘ
showsAnticipation true ⓘ

How these facts were elicited

Referenced by (2)

Full triples — surface form annotated when it differs from this entity's canonical label.

Huntington's disease → hasAbbreviation → HD ⓘ
subject linked to: HD