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encyclopedia of Rare Disease Annotation for Precision Medicine



   tardive dyskinesia
  

Disease ID 492
Disease tardive dyskinesia
Definition
iatrogenic extrapyramidal disorder produced by long-term administration of antipsychotic drugs; characterized by oral/lingual/buccal dyskinesias and choreoathetoid movements of the extremities.
Synonym
dyskinesia tardive
dyskinesia, tardive
dyskinesias tardive
dyskinesias, tardive
dystonia, tardive
dystonias, tardive
tardive dyskinesia (disorder)
tardive dyskinesia -retired-
tardive dyskinesia [disease/finding]
tardive dyskinesias
tardive dystonia
tardive dystonias
OMIM
UMLS
C0686347
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
C0036341  |  schizophrenia  |  15
C0221765  |  chronic schizophrenia  |  2
C0041696  |  major depressive disorder  |  1
C0039494  |  temporomandibular disorder  |  1
C0033975  |  psychosis  |  1
C0013421  |  dystonia  |  1
C0013384  |  dyskinesia  |  1
C0036337  |  schizoaffective disorder  |  1
C0005586  |  bipolar disorder  |  1
C0040517  |  tourette's syndrome  |  1
C0030567  |  parkinson's disease  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:27)
1312  |  COMT  |  CIPHER
1586  |  CYP17A1  |  CIPHER
1544  |  CYP1A2  |  CIPHER
1565  |  CYP2D6  |  CIPHER
1576  |  CYP3A4  |  CIPHER
1577  |  CYP3A5  |  CIPHER
1812  |  DRD1  |  CIPHER
1813  |  DRD2  |  CIPHER
1814  |  DRD3  |  CIPHER
1815  |  DRD4  |  CIPHER
2876  |  GPX1  |  CIPHER
2944  |  GSTM1  |  CIPHER
2952  |  GSTT1  |  CIPHER
3356  |  HTR2A  |  CIPHER
3358  |  HTR2C  |  CIPHER
3362  |  HTR6  |  CIPHER
4128  |  MAOA  |  CIPHER
4129  |  MAOB  |  CIPHER
4842  |  NOS1  |  CIPHER
4846  |  NOS3  |  CIPHER
3164  |  NR4A1  |  CIPHER
5053  |  PAH  |  CIPHER
283871  |  PGP  |  CIPHER
6531  |  SLC6A3  |  CIPHER
6532  |  SLC6A4  |  CIPHER
6648  |  SOD2  |  CIPHER
7166  |  TPH1  |  CIPHER
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 492
Disease tardive dyskinesia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:2)
HP:0000707  |  Neurological abnormality
HP:0040141  |  Tardive dyskinesia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
HP:0100753  |  Schizophrenia  |  16
HP:0002015  |  Swallowing difficulty  |  1
HP:0002071  |  Extrapyramidal dysfunction  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0001249  |  Mental retardation  |  1
HP:0100660  |  Dyskinesis  |  1
HP:0001332  |  Dystonia  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0000709  |  Psychosis  |  1
HP:0001300  |  Parkinsonism  |  1
HP:0001250  |  Seizures  |  1
HP:0000708  |  Behavioral problems  |  1
Disease ID 492
Disease tardive dyskinesia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:15)
C2364114  |  tremor
C1963184  |  nystagmus
C1963154  |  renal failure
C0558189  |  abnormal movement
C0427086  |  involuntary movements
C0422833  |  ent symptoms
C0393593  |  dystonia
C0392702  |  abnormal involuntary movements
C0242422  |  parkinsonism
C0236830  |  neuroleptic-induced parkinsonism
C0234507  |  anosognosia
C0233401  |  psychiatric symptoms
C0037090  |  respiratory symptoms
C0026650  |  movement disorders
C0013384  |  abnormal movements
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0242422  |  parkinsonism  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:51)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104528019049562409ARRB2umls:C0686347BeFreeThe coding-synonymous polymorphism rs1045280 (Ser280Ser) in beta-arrestin 2 (ARRB2) gene is associated with tardive dyskinesia in Chinese patients with schizophrenia.0.0002714422008ARRB2174719343CT
rs1800497187818566648SOD2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0095440732008ANKK111113400106GA
rs1800497187818561565CYP2D6umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0125299332008ANKK111113400106GA
rs1800497187818561813DRD2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.016178232008ANKK111113400106GA
rs1800497187818561544CYP1A2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0058957762008ANKK111113400106GA
rs1800497187818561814DRD3umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.036547642008ANKK111113400106GA
rs1800566189770341728NQO1umls:C0686347BeFreeAdditive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismutase gene (MnSOD: Ala-9Val) polymorphisms on tardive dyskinesia in patients with schizophrenia.0.0013572092008NQO11669711242GA
rs1800566189770346648SOD2umls:C0686347BeFreeAdditive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismutase gene (MnSOD: Ala-9Val) polymorphisms on tardive dyskinesia in patients with schizophrenia.0.0095440732008NQO11669711242GA
rs1800566189770348630HSD17B6umls:C0686347BeFreeAdditive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismutase gene (MnSOD: Ala-9Val) polymorphisms on tardive dyskinesia in patients with schizophrenia.0.0002714422008NQO11669711242GA
rs1800566189770347296TXNRD1umls:C0686347BeFreeAdditive effect between quinine oxidoreductase gene (NQO1: Pro187Ser) and manganese superoxide dismutase gene (MnSOD: Ala-9Val) polymorphisms on tardive dyskinesia in patients with schizophrenia.0.0002714422008NQO11669711242GA
rs1800566197785691666DECR1umls:C0686347BeFree(2004) originally reported a significant association between TD and the NADPH quinine oxidoreductase 1 (NQO1) gene Pro187Ser (C609T, rs1800566) polymorphism in Korean schizophrenia patients; however, subsequent studies have not consistently replicated these findings.0.0002714422010NQO11669711242GA
rs1800566197785691728NQO1umls:C0686347BeFree(2004) originally reported a significant association between TD and the NADPH quinine oxidoreductase 1 (NQO1) gene Pro187Ser (C609T, rs1800566) polymorphism in Korean schizophrenia patients; however, subsequent studies have not consistently replicated these findings.0.0013572092010NQO11669711242GA
rs1800955175568531815DRD4umls:C0686347BeFreeNo association between dopamine D4 receptor gene -521 C/T polymorphism and tardive dyskinesia in schizophrenia.0.0084583052007DRD411636784TC
rs1801028161606201813DRD2umls:C0686347BeFreeThis study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) 2 cytochrome P450 (CYP) genes (CYP2D6 or CYP3A5), (b) 2 DRD2 variants (Ser311Cys and -141C Ins/del) and the Ser9Gly DRD3 variants, (c) 2 glutathione S-transferases (GSTT1 and GSTM1), and (d) variations in the PgP gene, MDR1.0.016178232005DRD211113412762GC
rs1801028161606209360PPIGumls:C0686347BeFreeThis study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) 2 cytochrome P450 (CYP) genes (CYP2D6 or CYP3A5), (b) 2 DRD2 variants (Ser311Cys and -141C Ins/del) and the Ser9Gly DRD3 variants, (c) 2 glutathione S-transferases (GSTT1 and GSTM1), and (d) variations in the PgP gene, MDR1.0.0008143262005DRD211113412762GC
rs1805054120578223362HTR6umls:C0686347BeFreeGenetic association analysis of 5-HT(6) receptor gene polymorphism (267C/T) with tardive dyskinesia.0.0002714422002HTR6119666020CT
rs377591409151183511565CYP2D6umls:C0686347BeFreeWe concluded that the CYP2D6*10 C188T polymorphism may be associated with the susceptibility to the occurrence of TD induced by typical antipsychotics, especially in male patients, and may also be correlated with AIMS scores in TD patients.0.0125299332004CYP2D6;LOC1027237222242129173GA,T
rs38660211822695185627BDNFumls:C0686347BeFreeBrain-derived neurotrophic factor levels and its Val66Met gene polymorphism predict tardive dyskinesia treatment response to Ginkgo biloba.0.0039956832012NANANANANA
rs38660211818602732627BDNFumls:C0686347BeFreeNo association between the brain-derived neurotrophic factor gene Val66Met polymorphism and tardive dyskinesia in schizophrenic patients.0.0039956832008NANANANANA
rs38660211815626824627BDNFumls:C0686347BeFreeAssociation analysis of the dopamine D3 receptor gene ser9gly and brain-derived neurotrophic factor gene val66met polymorphisms with antipsychotic-induced persistent tardive dyskinesia and clinical expression in Chinese schizophrenic patients.0.0039956832004NANANANANA
rs386602280158619313356HTR2Aumls:C0686347BeFreeThe 9Gly-variant of the dopamine D3 receptor, the 102C-variant, but not the His452Tyr polymorphism of the 5-HT2A-receptor and the 23Ser-variant (for females only) of the 5-HT2C receptor seem to increase the susceptibility to tardive dyskinesia.0.0098155152005NANANANANA
rs386602280158619313358HTR2Cumls:C0686347BeFreeThe 9Gly-variant of the dopamine D3 receptor, the 102C-variant, but not the His452Tyr polymorphism of the 5-HT2A-receptor and the 23Ser-variant (for females only) of the 5-HT2C receptor seem to increase the susceptibility to tardive dyskinesia.0.0058198312005NANANANANA
rs386602280158619311814DRD3umls:C0686347BeFreeThe 9Gly-variant of the dopamine D3 receptor, the 102C-variant, but not the His452Tyr polymorphism of the 5-HT2A-receptor and the 23Ser-variant (for females only) of the 5-HT2C receptor seem to increase the susceptibility to tardive dyskinesia.0.036547642005NANANANANA
rs4680181807546648SOD2umls:C0686347BeFreeEvidence from pooled data for genetic association with tardive dyskinesia (TD) showed (1) in COMT(val158met), using Val-Val homozygotes as reference category, a protective effect for Val-Met heterozygotes (OR=0.63, 95% CI: 0.46-0.86, P=0.004) and Met carriers (OR=0.66, 95% CI: 0.49-0.88, P=0.005); (2) in Taq1A in DRD2, using the A1 variant as reference category, a risk-increasing effect for the A2 variant (OR=1.30, 95% CI: 1.03-1.65, P=0.026), and A2-A2 homozygotes using A1-A1 as reference category (OR=1.80, 95% CI: 1.03-3.15, P=0.037); (3) in MnSOD Ala-9Val, using Ala-Ala homozygotes as reference category, a protective effect for Ala-Val (OR=0.37, 95% CI: 0.17-0.79, P=0.009) and for Val carriers (OR=0.49, 95% CI: 0.24-1.00, P=0.047).0.0095440732008COMT;MIR47612219963748GA
rs4680155839531312COMTumls:C0686347BeFreeNegative association between catechol-O-methyltransferase (COMT) gene Val158Met polymorphism and persistent tardive dyskinesia in schizophrenia.0.0016286512005COMT;MIR47612219963748GA
rs4680181807541813DRD2umls:C0686347BeFreeEvidence from pooled data for genetic association with tardive dyskinesia (TD) showed (1) in COMT(val158met), using Val-Val homozygotes as reference category, a protective effect for Val-Met heterozygotes (OR=0.63, 95% CI: 0.46-0.86, P=0.004) and Met carriers (OR=0.66, 95% CI: 0.49-0.88, P=0.005); (2) in Taq1A in DRD2, using the A1 variant as reference category, a risk-increasing effect for the A2 variant (OR=1.30, 95% CI: 1.03-1.65, P=0.026), and A2-A2 homozygotes using A1-A1 as reference category (OR=1.80, 95% CI: 1.03-3.15, P=0.037); (3) in MnSOD Ala-9Val, using Ala-Ala homozygotes as reference category, a protective effect for Ala-Val (OR=0.37, 95% CI: 0.17-0.79, P=0.009) and for Val carriers (OR=0.49, 95% CI: 0.24-1.00, P=0.047).0.016178232008COMT;MIR47612219963748GA
rs4880187818561814DRD3umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.036547642008SOD26159692840AG
rs4880187818566648SOD2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0095440732008SOD26159692840AG
rs4880187818561544CYP1A2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0058957762008SOD26159692840AG
rs4880187818561813DRD2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.016178232008SOD26159692840AG
rs4880187818561565CYP2D6umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0125299332008SOD26159692840AG
rs6280165133291814DRD3umls:C0686347BeFreeAntipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD3 gene: a meta analysis.0.036547642006DRD33114171968CT
rs6280187818561813DRD2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.016178232008DRD33114171968CT
rs6280121099671814DRD3umls:C0686347BeFreeAssociation of the Ser9Gly polymorphism in the dopamine D3 receptor gene with tardive dyskinesia in Korean schizophrenics.0.036547642002DRD33114171968CT
rs6280192381681814DRD3umls:C0686347BeFreeThus, a number of studies have focused on the association of dopamine system gene polymorphisms and TD, with the most consistent findings being an association between TD and the Ser9Gly polymorphism of the DRD3 gene and the TaqIA site 3' of the DRD2 gene.0.036547642009DRD33114171968CT
rs6280185624011814DRD3umls:C0686347BeFreeThis study investigated the possible relationship between TD and the polymorphisms Ser9Gly (DRD3), 102T>C (HTR2A), -1438G>A(HTR2A) and Cys23Ser (HTR2C) in African-Caribbean inpatients.0.036547642009DRD33114171968CT
rs6280187818561544CYP1A2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0058957762008DRD33114171968CT
rs6280114901791814DRD3umls:C0686347BeFreeAssociation between the Ser9Gly polymorphism of the dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients.0.036547642001DRD33114171968CT
rs6280187818561814DRD3umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.036547642008DRD33114171968CT
rs6280187818566648SOD2umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0095440732008DRD33114171968CT
rs6280187818561565CYP2D6umls:C0686347BeFreeSearch for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2 Taq1A (rs1800497), DRD3 Ser9Gly (rs6280) and MnSOD Ala9Val (rs4880) variants with TD.0.0125299332008DRD33114171968CT
rs6280120629111814DRD3umls:C0686347BeFreePharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with dopamine D3 receptor gene Ser9Gly polymorphism.0.036547642002DRD33114171968CT
rs6280193582231814DRD3umls:C0686347BeFreeThe DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: a meta-analysis.0.036547642010DRD33114171968CT
rs6280161606201814DRD3umls:C0686347BeFreeTwo gene variants appeared to be significant after adding them to the clinical regression models: (1) Ser9Gly DRD3 polymorphism was associated with severe TD (odds ratio for patients with 1 mutant allele when compared with individuals with 2 wild types was 2.5, 95% confidence interval 1.1-5.6, whereas the odds ratio for patients with 2 mutant alleles when compared with individuals with 1 mutant was 2.8, 95% confidence interval 1.0-7.4), and (2) GSTM1 absence was associated with TD (odds ratio 1.7, 95% confidence interval 1.2-2.4) particularly in white women.0.036547642005DRD33114171968CT
rs6280161606209360PPIGumls:C0686347BeFreeThis study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) 2 cytochrome P450 (CYP) genes (CYP2D6 or CYP3A5), (b) 2 DRD2 variants (Ser311Cys and -141C Ins/del) and the Ser9Gly DRD3 variants, (c) 2 glutathione S-transferases (GSTT1 and GSTM1), and (d) variations in the PgP gene, MDR1.0.0008143262005DRD33114171968CT
rs6280161606201813DRD2umls:C0686347BeFreeThis study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) 2 cytochrome P450 (CYP) genes (CYP2D6 or CYP3A5), (b) 2 DRD2 variants (Ser311Cys and -141C Ins/del) and the Ser9Gly DRD3 variants, (c) 2 glutathione S-transferases (GSTT1 and GSTM1), and (d) variations in the PgP gene, MDR1.0.016178232005DRD33114171968CT
rs6280221729311814DRD3umls:C0686347BeFreeGenetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly) and tardive dyskinesia in patients with schizophrenia: a reevaluation in East Asian populations.0.036547642012DRD33114171968CT
rs723937282395105480199FUZumls:C0686347BeFreeRs1800872 and rs72393728 were genotyped in schizophrenic patients with TD (n = 372) and without TD (NTD; n = 412).0.0002714422013NANANANANA
rs7669317219070902736GLI2umls:C0686347BeFreeMoreover, the application of the genome-wide association study (GWAS) to the susceptibility of TD has revealed certain associated genes that previously were never considered to be associated with TD, such as the rs7669317 on 4q24, GLI2 gene, GABA pathway genes, and HSPG2 gene.0.0005428842011NA4105536173TC
rs7669317219070903339HSPG2umls:C0686347BeFreeMoreover, the application of the genome-wide association study (GWAS) to the susceptibility of TD has revealed certain associated genes that previously were never considered to be associated with TD, such as the rs7669317 on 4q24, GLI2 gene, GABA pathway genes, and HSPG2 gene.0.0008143262011NA4105536173TC
rs76980269150881554842NOS1umls:C0686347BeFreeWe concluded that the NOS1 3'-UTR C276T polymorphism might not play a major role in the susceptibility of TD development, or on the severity of TD.0.0005428842004NOS112117330794GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0000707Abnormality of the nervous systemMP:0013620increased internal diameter of femurincreased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
Mapped by homologous gene(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0000707Abnormality of the nervous systemMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
Disease ID 492
Disease tardive dyskinesia
Case(Waiting for update.)