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Huntington's disease-like 1
Summary
- Synonym
-
- HDL1
- HLN1
- Huntington disease-like 1
- Huntington-like neurodegenerative disorder 1
- autosomal dominant Huntington-like neurodegenerative disorder
- early-onset prion disease with prominent psychiatric features
- Definition
- A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.
- Super Class
- prion disease
External Links
- Disease Ontology
- DOID:0090103
- Mondo Disease Ontology
- ORDO
- OMIM
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 |
|---|---|---|
| Q6ZVN8 | Hemojuvelin | |
| Q8NFU5 | Inositol polyphosphate multikinase | |
| Q92187 | CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase | |
| Q96SL4 | Glutathione peroxidase 7 | |
| Q99685 | Monoglyceride lipase | |
| Q99798 | Aconitate hydratase, mitochondrial | |
| Q9BVK6 | Transmembrane emp24 domain-containing protein 9 | |
| Q9C0K1 | Metal cation symporter ZIP8 | |
| Q9UEF7 | Klotho | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002354 | Memory impairment |
| HP:0002359 | Frequent falls |
| HP:0002375 | Hypokinesia |
| HP:0002457 | Abnormal head movements |
| HP:0002533 | Abnormal posturing |
| HP:0003043 | Abnormal shoulder morphology |
| HP:0004305 | Involuntary movements |
| HP:0006801 | Hyperactive deep tendon reflexes |
| HP:0006961 | Jerky head movements |
| HP:0007010 | Poor fine motor coordination |
