disease 1,229 words KG: ent-dise-73802678 2026-03-21
kind:diseasesection:diseasesstate:published
Contents

Huntington Disease

Disease Info
PrevalenceApproximately 5-10 per 100,000 people worldwide
Typical OnsetTypically 30-50 years, but can present at any age
PopulationHigher prevalence in populations of European ancestry (5-10/100,000) compared to Asian populations (0.5-1/100,000)
SexEqual prevalence in males and females
Disease Duration15-20 years from onset to death
HTT (Huntingtin)Located on chromosome 4p16.3; CAG repeat expansion causes HD[@the1993]
CAG Repeat LengthStrong inverse correlation between repeat length and age of onset[@gusella2023]
DNA Repair GenesMSH3, FAN1, and other DNA repair pathway genes modify age of onset[@hong2023]
HTT haplotypesDifferent haplotypes affect disease progression
Transcriptional dysregulationmHTT interacts with transcription factors (REST, NCoR, SP1), disrupting gene expression
Protein aggregationmHTT forms insoluble aggregates in neurons
Loss of normal functionWild-type huntingtin is essential for neuronal health
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (2)

Trinucleotide Repeat Sequestration via CRISPR-Guided RNA Tar
Score: 0.48
Astrocyte-Mediated Neuronal Epigenetic Rescue
Score: 0.48

Related Analyses (19)

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