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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 |
|---|---|---|
| Q9Y6A2 | Cholesterol 24-hydroxylase |
- 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 |
