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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4804 | NGFR | nerve growth factor receptor | |
| 4846 | NOS3 | nitric oxide synthase 3 | |
| 4887 | NPY2R | neuropeptide Y receptor Y2 | |
| 4899 | NRF1 | nuclear respiratory factor 1 | |
| 5357 | PLS1 | plastin 1 | |
| 5358 | PLS3 | plastin 3 | |
| 5467 | PPARD | peroxisome proliferator activated receptor delta | |
| 5562 | PRKAA1 | protein kinase AMP-activated catalytic subunit alpha 1 | |
| 5610 | EIF2AK2 | eukaryotic translation initiation factor 2 alpha kinase 2 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18024 | Nfe2l2 | nuclear factor, erythroid derived 2, like 2 | |
| 18053 | Ngfr | nerve growth factor receptor (TNFR superfamily, member 16) | |
| 18121 | Nog | noggin | |
| 18127 | Nos3 | nitric oxide synthase 3, endothelial cell | |
| 18167 | Npy2r | neuropeptide Y receptor Y2 | |
| 19017 | Ppargc1a | peroxisome proliferative activated receptor, gamma, coactivator 1 alpha | |
| 19225 | Ptgs2 | prostaglandin-endoperoxide synthase 2 | |
| 20466 | Sin3a | transcriptional regulator, SIN3A (yeast) | |
| 20511 | Slc1a2 | solute carrier family 1 (glial high affinity glutamate transporter), member 2 | |
| 22228 | Ucp2 | uncoupling protein 2 (mitochondrial, proton carrier) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 25591 | Parp1 | poly (ADP-ribose) polymerase 1 | |
| 25595 | Map2 | microtubule-associated protein 2 | |
| 25608 | Lep | leptin | |
| 29482 | Slc1a2 | solute carrier family 1 member 2 | |
| 29527 | Ptgs2 | prostaglandin-endoperoxide synthase 2 | |
| 54257 | Grik2 | glutamate ionotropic receptor kainate type subunit 2 | |
| 54315 | Ucp2 | uncoupling protein 2 | |
| 57302 | Cnr2 | cannabinoid receptor 2 | |
| 60422 | Slc18a3 | solute carrier family 18 member A3 | |
| 65248 | Prkaa1 | protein kinase AMP-activated catalytic subunit alpha 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 30173 | nog3 | noggin 3 | |
| 30174 | nog1 | noggin 1 | |
| 30667 | mtnr1aa | melatonin receptor 1A a | |
| 114549 | ache | acetylcholinesterase (Yt blood group) | |
| 394082 | slc18a3b | solute carrier family 18 member 3b | |
| 559347 | slc18a3a | solute carrier family 18 member 3a | |
| 560788 | parp1 | poly (ADP-ribose) polymerase 1 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 373646 | nog.L | noggin L homeolog | Xenopus laevis (African clawed frog) | |
| 378693 | npy2r.S | neuropeptide Y receptor Y2 S homeolog | Xenopus laevis (African clawed frog) | |
| 398763 | agtr1.L | angiotensin II receptor type 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 493191 | nog | noggin | Xenopus tropicalis (tropical clawed frog) | |
| 100127346 | grin2a.L | glutamate receptor, ionotropic, N-methyl D-aspartate 2A L homeolog | Xenopus laevis (African clawed frog) | |
| 108704141 | nog.S | noggin S homeolog | Xenopus laevis (African clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 171905 | ace-2 | Carboxylic ester hydrolase | |
| 175076 | ace-3 | Carboxylic ester hydrolase | |
| 175383 | zmp-2 | Matrix metalloproteinase-B | |
| 176204 | glr-1 | Glutamate receptor 1 | |
| 177343 | skn-1 | BZIP domain-containing protein;Protein skinhead-1 | |
| 177882 | glt-3 | Putative sodium-dependent excitatory amino acid transporter glt-3 | |
| 179197 | cri-2 | Putative metalloproteinase inhibitor tag-225 | |
| 179199 | timp-1 | NTR domain-containing protein | |
| 179246 | atg-18 | Autophagy-related protein 18 | |
| 179991 | zmp-4 | Hemopexin;Peptidase metallopeptidase domain-containing protein |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 850399 | SNT1 | Snt1p | |
| 850577 | ATG18 | phosphoinositide binding protein ATG18 | |
| 850608 | BNA6 | nicotinate-nucleotide diphosphorylase (carboxylating) | |
| 852806 | HSF1 | stress-responsive transcription factor HSF1 | |
| 854158 | SIN3 | transcriptional regulator SIN3 | |
| 854199 | AKR2 | putative palmitoyltransferase AKR2 | |
| 856004 | ATG21 | Atg21p | |
| 856014 | GLR1 | glutathione-disulfide reductase GLR1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000496 | Abnormality of eye movement |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000718 | Aggressive behavior |
| HP:0000722 | Compulsive behaviors |
| HP:0000734 | Disinhibition |
| HP:0000737 | Irritability |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
