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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 |
|---|---|---|---|
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2572 | GAD2 | glutamate decarboxylase 2 | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2739 | GLO1 | glyoxalase I | |
| 2882 | GPX7 | glutathione peroxidase 7 | |
| 2997 | GYS1 | glycogen synthase 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3958 | LGALS3 | galectin 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A2 | Cholesterol 24-hydroxylase |
