Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| 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:0008003 | Jerky ocular pursuit movements |
| HP:0011446 | Abnormality of mental function |
| HP:0100543 | Cognitive impairment |
| HP:0000751 | Personality changes |
| HP:0006999 | Basal ganglia gliosis |
| HP:0000718 | Aggressive behavior |
| HP:0000739 | Anxiety |
| HP:0100754 | Mania |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002063 | Rigidity |
