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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 |
|---|---|---|---|
| 18 | ABAT | 4-aminobutyrate aminotransferase | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 185 | AGTR1 | angiotensin II receptor type 1 | |
| 337 | APOA4 | apolipoprotein A4 | |
| 355 | FAS | Fas cell surface death receptor | |
| 356 | FASLG | Fas ligand | |
| 581 | BAX | BCL2 associated X, apoptosis regulator | |
| 590 | BCHE | butyrylcholinesterase | |
| 627 | BDNF | brain derived neurotrophic factor |
| 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 |
|---|---|---|---|
| 24180 | Agtr1a | angiotensin II receptor, type 1a | |
| 24225 | Bdnf | brain-derived neurotrophic factor | |
| 24409 | Grin2a | glutamate ionotropic receptor NMDA type subunit 2A | |
| 24410 | Grin2b | glutamate ionotropic receptor NMDA type subunit 2B | |
| 24596 | Ngfr | nerve growth factor receptor | |
| 24600 | Nos3 | nitric oxide synthase 3 | |
| 25262 | Itpr1 | inositol 1,4,5-trisphosphate receptor, type 1 | |
| 25385 | Faslg | Fas ligand | |
| 25425 | Ctsh | cathepsin H | |
| 25495 | Nog | noggin |
| 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 |
|---|---|---|---|
| 180351 | W01F3.2 | Uncharacterized protein | |
| 180641 | glt-1 | Excitatory amino acid transporter | |
| 180714 | dop-1 | Dopamine receptor 1 | |
| 181178 | gpx-5 | Glutathione peroxidase | |
| 181706 | ace-1 | Acetylcholinesterase 1 | |
| 182513 | gpx-3 | Glutathione peroxidase 3 | |
| 187623 | glt-6 | Putative sodium-dependent excitatory amino acid transporter glt-6 | |
| 266823 | parp-1 | Poly [ADP-ribose] polymerase;Poly [ADP-ribose] polymerase 1 |
| 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: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 |
