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
Related Genes
Displaying entries 81 - 87 of 87 in total
Gene ID Gene Symbol Description Source
54732 TMED9 transmembrane p24 trafficking protein 9
56848 SPHK2 sphingosine kinase 2
57704 GBA2 glucosylceramidase beta 2
64116 SLC39A8 solute carrier family 39 member 8
148738 HJV hemojuvelin BMP co-receptor
253430 IPMK inositol polyphosphate multikinase
257202 GPX6 glutathione peroxidase 6
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)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 44 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
6515 SLC2A3 solute carrier family 2 member 3

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Last updated: August 19, 2024