Egenskap
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.
Sammendrag
- Også kalt
- Choreic movements, Choreiform movements
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Få mitt Genome Test189 gener knyttet til Chorea
Endringer i disse genene forårsaker sjeldne tilstander der Chorea forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 2 tilstander |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alltid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Alltid | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| JPH3junctophilin 3 | Alltid | I 2 tilstander |
| MRM2mitochondrial rRNA methyltransferase 2 | Alltid | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Alltid | I 2 tilstander |
| NUP54nucleoporin 54 | Alltid | I 1 tilstand |
| PANK2pantothenate kinase 2 | Alltid | I 2 tilstander |
| PDE2Aphosphodiesterase 2A | Alltid | I 1 tilstand |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Alltid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Alltid | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Alltid | I 2 tilstander |
| HTThuntingtin | Svært ofte (80–99 %) | I 3 tilstander |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PDE10Aphosphodiesterase 10A | Svært ofte (80–99 %) | I 4 tilstander |
| PRNPprion protein (Kanno blood group) | Svært ofte (80–99 %) | I 3 tilstander |
| PRRT2proline rich transmembrane protein 2 | Svært ofte (80–99 %) | I 4 tilstander |
| SLC2A3solute carrier family 2 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Svært ofte (80–99 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| APTXaprataxin | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP7BATPase copper transporting beta | Ofte (30–79 %) | I 1 tilstand |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 2 tilstander |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| CPceruloplasmin | Ofte (30–79 %) | I 2 tilstander |
| FTLferritin light chain | Ofte (30–79 %) | I 2 tilstander |
| GM2Aganglioside GM2 activator | Ofte (30–79 %) | I 2 tilstander |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstander |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
Vis 149 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Ofte (30–79 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Ofte (30–79 %) | I 1 tilstand |
| KIF5Akinesin family member 5A | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Ofte (30–79 %) | I 2 tilstander |
| MRE11MRE11 double strand break repair nuclease | Ofte (30–79 %) | I 2 tilstander |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| NIT1nitrilase 1 | Ofte (30–79 %) | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 3 tilstander |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstander |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 2 tilstander |
| TLR7toll like receptor 7 | Ofte (30–79 %) | I 2 tilstander |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 3 tilstander |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ofte (30–79 %) | I 1 tilstand |
| VAMP2vesicle associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Noen ganger (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARSAarylsulfatase A | Noen ganger (5–29 %) | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HCFC1host cell factor C1 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 2 tilstander |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Noen ganger (5–29 %) | I 2 tilstander |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NPTX1neuronal pentraxin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RNF216ring finger protein 216 | Noen ganger (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETXsenataxin | Noen ganger (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Noen ganger (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Noen ganger (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TNFAIP3TNF alpha induced protein 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TRMT2BtRNA methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| VPS4Avacuolar protein sorting 4 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF142zinc finger protein 142 | Noen ganger (5–29 %) | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Sjelden (1–4%) | I 1 tilstand |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Sjelden (1–4%) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Sjelden (1–4%) | I 1 tilstand |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Sjelden (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjelden (1–4%) | I 1 tilstand |
| CR2complement C3d receptor 2 | Sjelden (1–4%) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sjelden (1–4%) | I 1 tilstand |
| DNASE1deoxyribonuclease 1 | Sjelden (1–4%) | I 1 tilstand |
| DYSFdysferlin | Sjelden (1–4%) | I 1 tilstand |
| ETS1ETS proto-oncogene 1, transcription factor | Sjelden (1–4%) | I 1 tilstand |
| FCGR2BFc gamma receptor IIb | Sjelden (1–4%) | I 1 tilstand |
| FCGR3BFc gamma receptor IIIb | Sjelden (1–4%) | I 1 tilstand |
| FXNfrataxin | Sjelden (1–4%) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sjelden (1–4%) | I 1 tilstand |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Sjelden (1–4%) | I 1 tilstand |
| IL10interleukin 10 | Sjelden (1–4%) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Sjelden (1–4%) | I 1 tilstand |
| ITGAMintegrin subunit alpha M | Sjelden (1–4%) | I 1 tilstand |
| JAZF1JAZF zinc finger 1 | Sjelden (1–4%) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Sjelden (1–4%) | I 1 tilstand |
| PDCD1programmed cell death 1 | Sjelden (1–4%) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sjelden (1–4%) | I 1 tilstand |
| PXKPX domain containing serine/threonine kinase like | Sjelden (1–4%) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Sjelden (1–4%) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Sjelden (1–4%) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Sjelden (1–4%) | I 1 tilstand |
| TNIP1TNFAIP3 interacting protein 1 | Sjelden (1–4%) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Sjelden (1–4%) | I 1 tilstand |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Sjelden (1–4%) | I 1 tilstand |
| ACAT2acetyl-CoA acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| ATXN7ataxin 7 | Ikke registrert | I 1 tilstand |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Ikke registrert | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| GPR88G protein-coupled receptor 88 | Ikke registrert | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ikke registrert | I 2 tilstander |
| JAM2junctional adhesion molecule 2 | Ikke registrert | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registrert | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registrert | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ikke registrert | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registrert | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registrert | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registrert | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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