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 11 - 20 of 81 in total
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
847 CAT catalase
929 CD14 CD14 molecule
1103 CHAT choline O-acetyltransferase
1116 CHI3L1 chitinase 3 like 1
1272 CNTN1 contactin 1
1312 COMT catechol-O-methyltransferase
1431 CS citrate synthase
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1636 ACE angiotensin I converting enzyme

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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