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 1 - 10 of 87 in total
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
43 ACHE acetylcholinesterase (Yt blood group)
48 ACO1 aconitase 1
50 ACO2 aconitase 2
142 PARP1 poly(ADP-ribose) polymerase 1
240 ALOX5 arachidonate 5-lipoxygenase
248 ALPI alkaline phosphatase, intestinal
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
412 STS steroid sulfatase
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
Displaying entry 61 - 61 of 61 in total
UniProt ID Protein Name Source
Q9Y6A2 Cholesterol 24-hydroxylase
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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Last updated: August 19, 2024