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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 |
|---|---|---|---|
| 27163 | NAAA | N-acylethanolamine acid amidase | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 51548 | SIRT6 | sirtuin 6 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 56848 | SPHK2 | sphingosine kinase 2 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 148738 | HJV | hemojuvelin BMP co-receptor | |
| 253430 | IPMK | inositol polyphosphate multikinase |
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 |
