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Huntington's disease
Summary
- Synonym
-
- HD
- Huntington disease
- Huntington's chorea
- Definition
- A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
- Super Class
- neurodegenerative disease
External Links
- Disease Ontology
- DOID:12858
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
-
- 5052381
- 5432191
- 5432190
- 5432179
- 5432178
- 5432177
- 5432176
- 5304801
- 5292519
- 5286128
- 5432192
- 5052380
- 5052308
- 5052307
- 4438241
- 4437302
- 4429156
- 3851446
- 3813482
- 5617271
- 7266814
- 6400710
- 6294294
- 6294293
- 5897176
- 5700345
- 5698523
- 5635161
- 5635158
- 3800927
- 5575509
- 5569537
- 5569536
- 5569535
- 5569533
- 5566682
- 5565691
- 5466506
- 3573928
- 3698001
- 3694681
- 3613525
- 3605770
- 3605769
- 3586839
- 3586835
- 3584455
- 3584454
- 3698002
- 3573927
- 3530234
- 3043476
- 2675620
- 2671158
- 2670622
- 2670610
- 2176494
- 3698752
- 3757568
- 3757562
- 3723505
- 3722277
- 3709758
- 3699097
- 3699093
- 3698855
- 3698754
- 2176436
- 3698408
- 3698279
- 3698276
- 3698042
- 3698041
- 3698040
- 3698039
- 3698007
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18 | ABAT | 4-aminobutyrate aminotransferase | |
| 627 | BDNF | brain derived neurotrophic factor | |
| 2752 | GLUL | glutamate-ammonia ligase | |
| 2898 | GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | |
| 2903 | GRIN2A | glutamate ionotropic receptor NMDA type subunit 2A | |
| 2904 | GRIN2B | glutamate ionotropic receptor NMDA type subunit 2B | |
| 3064 | HTT | huntingtin | |
| 3297 | HSF1 | heat shock transcription factor 1 | |
| 3569 | IL6 | interleukin 6 | |
| 3570 | IL6R | interleukin 6 receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13002 | Glutamate receptor ionotropic, kainate 2 | |
| Q13224 | Glutamate receptor ionotropic, NMDA 2B | |
| Q13253 | Noggin | |
| Q16656 | Nuclear respiratory factor 1 | |
| Q96EB6 | NAD-dependent protein deacetylase sirtuin-1 | |
| Q9UBK2 | Peroxisome proliferator-activated receptor gamma coactivator 1-alpha |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P42859 | Huntingtin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35355 | Prostaglandin G/H synthase 2 | |
| Q9QYK2 | Peroxisome proliferator-activated receptor gamma coactivator 1-alpha | |
| Q9QZN9 | Cannabinoid receptor 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002375 | Hypokinesia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002540 | Inability to walk |
| HP:0002591 | Polyphagia |
| HP:0003107 | Abnormal circulating cholesterol concentration |
| HP:0003324 | Generalized muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0004305 | Involuntary movements |
| HP:0004408 | Abnormality of the sense of smell |
| HP:0007010 | Poor fine motor coordination |
