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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
| 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 |
Related Glycoprotein
