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 51 - 60 of 81 in total
Gene ID Gene Symbol Description Source
6515 SLC2A3 solute carrier family 2 member 3
6517 SLC2A4 solute carrier family 2 member 4
7108 TM7SF2 transmembrane 7 superfamily member 2
7903 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
8526 DGKE diacylglycerol kinase epsilon
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
8877 SPHK1 sphingosine kinase 1
8879 SGPL1 sphingosine-1-phosphate lyase 1
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9365 KL klotho

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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