Huntington's disease-like 2

Summary
Synonym
  • HDL2
  • Huntington disease-like 2
Definition
A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
Super Class
neurodegenerative disease
External Links
Disease Ontology
DOID:0090104
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 50 of 81 in total
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5335 PLCG1 phospholipase C gamma 1
5538 PPT1 palmitoyl-protein thioesterase 1
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5621 PRNP prion protein (Kanno blood group)
5743 PTGS2 prostaglandin-endoperoxide synthase 2
5973 RENBP renin binding protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024