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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 |
|---|---|---|
| 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:0000746 | Delusion |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001260 | Dysarthria |
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001310 | Dysmetria |
| HP:0001350 | Slurred speech |
| HP:0001824 | Weight loss |
