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Standards Ontologies Notations
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
Disease Ontology
DOID:12858
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 51 - 60 of 77 in total
Gene ID Gene Symbol Description Source
6431 SRSF6 serine and arginine rich splicing factor 6
6506 SLC1A2 solute carrier family 1 member 2
6572 SLC18A3 solute carrier family 18 member A3
6908 TBP TATA-box binding protein
7019 TFAM transcription factor A, mitochondrial
7351 UCP2 uncoupling protein 2
9241 NOG noggin
9322 TRIP10 thyroid hormone receptor interactor 10
9611 NCOR1 nuclear receptor corepressor 1
9869 SETDB1 SET domain bifurcated histone lysine methyltransferase 1
Displaying entries 1 - 10 of 50 in total
Gene ID Gene Symbol Description Source
11423 Ache acetylcholinesterase
11607 Agtr1a angiotensin II receptor, type 1a
11608 Agtr1b angiotensin II receptor, type 1b
11909 Atf2 activating transcription factor 2
12028 Bax BCL2-associated X protein
12038 Bche butyrylcholinesterase
12064 Bdnf brain derived neurotrophic factor
12371 Casp9 caspase 9
12802 Cnr2 cannabinoid receptor 2
13036 Ctsh cathepsin H
Displaying entry 31 - 31 of 31 in total
Gene ID Gene Symbol Description Source
314436 Elk1 ETS transcription factor ELK1
Displaying all 6 entries
Gene ID Gene Symbol Description Source
36382 Sin3A Sin3A
41625 Ace Acetylcholine esterase
41726 Dop1R1 Dopamine 1-like receptor 1
42795 VAChT Vesicular acetylcholine transporter
140439 Tre1 Trapped in endoderm 1
3355109 Parp1 Poly-(ADP-ribose) polymerase 1
Displaying all 7 entries
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
Displaying all 6 entries
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)
Displaying entries 1 - 10 of 18 in total
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
Displaying all 8 entries
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
Displaying entries 21 - 30 of 44 in total
HPO ID HPO Term
HP:0002063 Rigidity
HP:0002067 Bradykinesia
HP:0002072 Chorea
HP:0002141 Gait imbalance
HP:0002169 Clonus
HP:0002300 Mutism
HP:0002312 Clumsiness
HP:0002340 Caudate atrophy
HP:0002354 Memory impairment
HP:0002355 Difficulty walking
Displaying 1 entry
Gene ID Gene Symbol Description
6515 SLC2A3 solute carrier family 2 member 3
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024