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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 |
|---|---|---|---|
| 6515 | SLC2A3 | solute carrier family 2 member 3 | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8526 | DGKE | diacylglycerol kinase epsilon | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 8877 | SPHK1 | sphingosine kinase 1 | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9365 | KL | klotho |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A2 | Cholesterol 24-hydroxylase |
- 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 |
