disease 915 words KG: ent-dise-6e7a49bb 2026-03-22
kind:diseasesection:diseasesstate:published
Contents

Huntington Disease-Like 2 (HDL2)

Disease Info
InheritanceAutosomal dominant
Gene*JPH3* (Junctophilin-3)
Chromosomal location16q24.3
ChoreaJerky, involuntary movements (present in ~90%)
DystoniaSustained muscle contractions (60-70%)
ParkinsonismBradykinesia, rigidity (30-40%)
AtaxiaCoordination difficulties (20-30%)
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (1)

Enteric Nervous System Prion-Like Propagation Blockade
Score: 0.44

Related Analyses (16)

What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
TREM2 agonism vs antagonism in DAM microglia
neurodegeneration · failed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · completed
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived

Related Experiments (2)

Epigenetic Dysregulation in Huntington's Disease — Therapeut
validation · proposed · Score: 0.40
Microglial Contributions to Huntington's Disease Pathogenesi
validation · proposed · Score: 0.40