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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 |
|---|---|---|---|
| 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
| 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: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 |
