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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
External Links
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 87 in total
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
Displaying all 5 entries
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
Displaying all 6 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
3355109 Parp1 Poly-(ADP-ribose) polymerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
560788 parp1 poly (ADP-ribose) polymerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
266823 parp-1 Poly [ADP-ribose] polymerase;Poly [ADP-ribose] polymerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
850608 BNA6 nicotinate-nucleotide diphosphorylase (carboxylating)
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 44 in total
HPO ID HPO Term
HP:0000746 Delusion
HP:0001250 Seizure
HP:0001262 Excessive daytime somnolence
HP:0001268 Mental deterioration
HP:0001288 Gait disturbance
HP:0001332 Dystonia
HP:0001336 Myoclonus
HP:0001347 Hyperreflexia
HP:0001824 Weight loss
HP:0002059 Cerebral atrophy
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: August 19, 2024