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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
- OMIM
- 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 |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5973 | RENBP | renin binding protein | |
| 6515 | SLC2A3 | solute carrier family 2 member 3 | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 7351 | UCP2 | uncoupling protein 2 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8526 | DGKE | diacylglycerol kinase epsilon |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16846 | Lep | leptin | |
| 19017 | Ppargc1a | peroxisome proliferative activated receptor, gamma, coactivator 1 alpha | |
| 22228 | Ucp2 | uncoupling protein 2 (mitochondrial, proton carrier) | |
| 67375 | Qprt | quinolinate phosphoribosyltransferase | |
| 105787 | Prkaa1 | protein kinase, AMP-activated, alpha 1 catalytic subunit |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 25591 | Parp1 | poly (ADP-ribose) polymerase 1 | |
| 25608 | Lep | leptin | |
| 54315 | Ucp2 | uncoupling protein 2 | |
| 65248 | Prkaa1 | protein kinase AMP-activated catalytic subunit alpha 1 | |
| 83516 | Ppargc1a | PPARG coactivator 1 alpha | |
| 293504 | Qprt | quinolinate phosphoribosyltransferase |
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: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 |
