Požymis
Chorea
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Santrauka
- Taip pat vadinama
- Choreic movements, Choreiform movements
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Chorea. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ADCY5adenylate cyclase 5 | Visada | 2 ligose |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Visada | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| FRRS1Lferric chelate reductase 1 like | Visada | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Visada | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| JPH3junctophilin 3 | Visada | 2 ligose |
| MRM2mitochondrial rRNA methyltransferase 2 | Visada | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Visada | 2 ligose |
| NUP54nucleoporin 54 | Visada | 1 ligoje |
| PANK2pantothenate kinase 2 | Visada | 2 ligose |
| PDE2Aphosphodiesterase 2A | Visada | 1 ligoje |
| PSMC1proteasome 26S subunit, ATPase 1 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Visada | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Visada | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Visada | 2 ligose |
| HTThuntingtin | Labai dažnai (80–99%) | 3 ligose |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Labai dažnai (80–99%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Labai dažnai (80–99%) | 2 ligose |
| PDE10Aphosphodiesterase 10A | Labai dažnai (80–99%) | 4 ligose |
| PRNPprion protein (Kanno blood group) | Labai dažnai (80–99%) | 3 ligose |
| PRRT2proline rich transmembrane protein 2 | Labai dažnai (80–99%) | 4 ligose |
| SLC2A3solute carrier family 2 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Labai dažnai (80–99%) | 1 ligoje |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Labai dažnai (80–99%) | 1 ligoje |
| APTXaprataxin | Dažnai (30–79%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Dažnai (30–79%) | 1 ligoje |
| ATP7BATPase copper transporting beta | Dažnai (30–79%) | 1 ligoje |
| ATXN1ataxin 1 | Dažnai (30–79%) | 2 ligose |
| ATXN2ataxin 2 | Dažnai (30–79%) | 1 ligoje |
| CPceruloplasmin | Dažnai (30–79%) | 2 ligose |
| FTLferritin light chain | Dažnai (30–79%) | 2 ligose |
| GM2Aganglioside GM2 activator | Dažnai (30–79%) | 2 ligose |
| GNAO1G protein subunit alpha o1 | Dažnai (30–79%) | 2 ligose |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 149 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Dažnai (30–79%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Dažnai (30–79%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Dažnai (30–79%) | 1 ligoje |
| KIF5Akinesin family member 5A | Dažnai (30–79%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Dažnai (30–79%) | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Dažnai (30–79%) | 2 ligose |
| MRE11MRE11 double strand break repair nuclease | Dažnai (30–79%) | 2 ligose |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| NIT1nitrilase 1 | Dažnai (30–79%) | 1 ligoje |
| PNKDPNKD metallo-beta-lactamase domain containing | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 2 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 3 ligose |
| SLC32A1solute carrier family 32 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC6A3solute carrier family 6 member 3 | Dažnai (30–79%) | 2 ligose |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| TBPTATA-box binding protein | Dažnai (30–79%) | 2 ligose |
| TLR7toll like receptor 7 | Dažnai (30–79%) | 2 ligose |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 3 ligose |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Dažnai (30–79%) | 1 ligoje |
| VAMP2vesicle associated membrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| ACP5acid phosphatase 5, tartrate resistant | Kartais (5–29%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Kartais (5–29%) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Kartais (5–29%) | 1 ligoje |
| ARSAarylsulfatase A | Kartais (5–29%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CICcapicua transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Kartais (5–29%) | 2 ligose |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FUSFUS RNA binding protein | Kartais (5–29%) | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Kartais (5–29%) | 1 ligoje |
| GCDHglutaryl-CoA dehydrogenase | Kartais (5–29%) | 1 ligoje |
| GLYCTKglycerate kinase | Kartais (5–29%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Kartais (5–29%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Kartais (5–29%) | 1 ligoje |
| HCFC1host cell factor C1 | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Kartais (5–29%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Kartais (5–29%) | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 2 ligose |
| MMUTmethylmalonyl-CoA mutase | Kartais (5–29%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Kartais (5–29%) | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Kartais (5–29%) | 2 ligose |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Kartais (5–29%) | 2 ligose |
| NAXDNAD(P)HX dehydratase | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 2 ligose |
| NPTX1neuronal pentraxin 1 | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 2 ligose |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 2 ligose |
| RNF216ring finger protein 216 | Kartais (5–29%) | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SETXsenataxin | Kartais (5–29%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Kartais (5–29%) | 1 ligoje |
| SLC19A3solute carrier family 19 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kartais (5–29%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Kartais (5–29%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 1 ligoje |
| TNFAIP3TNF alpha induced protein 3 | Kartais (5–29%) | 2 ligose |
| TRMT2BtRNA methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| TTI1TELO2 interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 1 ligoje |
| UBTFupstream binding transcription factor | Kartais (5–29%) | 2 ligose |
| VPS4Avacuolar protein sorting 4 homolog A | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF142zinc finger protein 142 | Kartais (5–29%) | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Retai (1–4 %) | 1 ligoje |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Retai (1–4 %) | 1 ligoje |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Retai (1–4 %) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Retai (1–4 %) | 1 ligoje |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Retai (1–4 %) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Retai (1–4 %) | 1 ligoje |
| CR2complement C3d receptor 2 | Retai (1–4 %) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Retai (1–4 %) | 1 ligoje |
| DNASE1deoxyribonuclease 1 | Retai (1–4 %) | 1 ligoje |
| DYSFdysferlin | Retai (1–4 %) | 1 ligoje |
| ETS1ETS proto-oncogene 1, transcription factor | Retai (1–4 %) | 1 ligoje |
| FCGR2BFc gamma receptor IIb | Retai (1–4 %) | 1 ligoje |
| FCGR3BFc gamma receptor IIIb | Retai (1–4 %) | 1 ligoje |
| FXNfrataxin | Retai (1–4 %) | 1 ligoje |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Retai (1–4 %) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Retai (1–4 %) | 1 ligoje |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Retai (1–4 %) | 1 ligoje |
| IL10interleukin 10 | Retai (1–4 %) | 1 ligoje |
| IRAK1interleukin 1 receptor associated kinase 1 | Retai (1–4 %) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Retai (1–4 %) | 1 ligoje |
| ITGAMintegrin subunit alpha M | Retai (1–4 %) | 1 ligoje |
| JAZF1JAZF zinc finger 1 | Retai (1–4 %) | 1 ligoje |
| KIAA0319LKIAA0319 like | Retai (1–4 %) | 1 ligoje |
| PDCD1programmed cell death 1 | Retai (1–4 %) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Retai (1–4 %) | 1 ligoje |
| PXKPX domain containing serine/threonine kinase like | Retai (1–4 %) | 1 ligoje |
| SPP1secreted phosphoprotein 1 | Retai (1–4 %) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Retai (1–4 %) | 1 ligoje |
| TNFSF4TNF superfamily member 4 | Retai (1–4 %) | 1 ligoje |
| TNIP1TNFAIP3 interacting protein 1 | Retai (1–4 %) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Retai (1–4 %) | 1 ligoje |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Retai (1–4 %) | 1 ligoje |
| ACAT2acetyl-CoA acetyltransferase 2 | Neužfiksuota | 1 ligoje |
| ATXN7ataxin 7 | Neužfiksuota | 1 ligoje |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Neužfiksuota | 1 ligoje |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| GPR88G protein-coupled receptor 88 | Neužfiksuota | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Neužfiksuota | 2 ligose |
| JAM2junctional adhesion molecule 2 | Neužfiksuota | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Neužfiksuota | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Neužfiksuota | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Neužfiksuota | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Neužfiksuota | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Neužfiksuota | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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