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 71 - 80 of 81 in total
Gene ID Gene Symbol Description Source
27163 NAAA N-acylethanolamine acid amidase
27306 HPGDS hematopoietic prostaglandin D synthase
51548 SIRT6 sirtuin 6
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54732 TMED9 transmembrane p24 trafficking protein 9
56848 SPHK2 sphingosine kinase 2
57704 GBA2 glucosylceramidase beta 2
64116 SLC39A8 solute carrier family 39 member 8
148738 HJV hemojuvelin BMP co-receptor
253430 IPMK inositol polyphosphate multikinase

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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