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 21 - 30 of 81 in total
Gene ID Gene Symbol Description Source
1718 DHCR24 24-dehydrocholesterol reductase
2215 FCGR3B Fc gamma receptor IIIb
2572 GAD2 glutamate decarboxylase 2
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2739 GLO1 glyoxalase I
2882 GPX7 glutathione peroxidase 7
2997 GYS1 glycogen synthase 1
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3425 IDUA alpha-L-iduronidase
3958 LGALS3 galectin 3

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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