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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 |
|---|---|---|---|
| 4023 | LPL | lipoprotein lipase | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4860 | PNP | purine nucleoside phosphorylase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5091 | PC | pyruvate carboxylase | |
| 5226 | PGD | phosphogluconate dehydrogenase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A2 | Cholesterol 24-hydroxylase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000298 | Mask-like facies |
| HP:0000496 | Abnormality of eye movement |
| HP:0000514 | Slow saccadic eye movements |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0000617 | Abnormality of ocular smooth pursuit |
| HP:0000639 | Nystagmus |
| HP:0000708 | Atypical behavior |
| HP:0000711 | Restlessness |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
