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 61 - 70 of 81 in total
Gene ID Gene Symbol Description Source
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10715 CERS1 ceramide synthase 1
10858 CYP46A1 cytochrome P450 family 46 subfamily A member 1
11343 MGLL monoglyceride lipase
22933 SIRT2 sirtuin 2
23205 ACSBG1 acyl-CoA synthetase bubblegum family member 1
23475 QPRT quinolinate phosphoribosyltransferase
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
26033 ATRNL1 attractin like 1
27036 SIGLEC7 sialic acid binding Ig like lectin 7

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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