Özellik
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.
Özet
- Diğer adları
- Choreic movements, Choreiform movements
- Vücut sistemi
- Abnormality of the nervous system
Referans genomGRCh38hg38
Gen ve varyant sayfalarındaki konumlar, bu tarayıcıda yaptığınız bu seçimi izler.
Read the genes linked to Chorea, and the rest of your genome, with one test.
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Genome Test'imi alChorea ile ilişkili 189 gen
Bu genlerdeki değişiklikler, Chorea özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| ADCY5adenylate cyclase 5 | Her zaman | 2 durumda |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Her zaman | 1 durumda |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Her zaman | 1 durumda |
| FLVCR1FLVCR choline and heme transporter 1 | Her zaman | 1 durumda |
| FRRS1Lferric chelate reductase 1 like | Her zaman | 1 durumda |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Her zaman | 1 durumda |
| IREB2iron responsive element binding protein 2 | Her zaman | 1 durumda |
| JPH3junctophilin 3 | Her zaman | 2 durumda |
| MRM2mitochondrial rRNA methyltransferase 2 | Her zaman | 1 durumda |
| NKX2-1NK2 homeobox 1 | Her zaman | 2 durumda |
| NUP54nucleoporin 54 | Her zaman | 1 durumda |
| PANK2pantothenate kinase 2 | Her zaman | 2 durumda |
| PDE2Aphosphodiesterase 2A | Her zaman | 1 durumda |
| PSMC1proteasome 26S subunit, ATPase 1 | Her zaman | 1 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Her zaman | 1 durumda |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Her zaman | 1 durumda |
| TSEN2tRNA splicing endonuclease subunit 2 | Her zaman | 1 durumda |
| VPS13Avacuolar protein sorting 13 homolog A | Her zaman | 2 durumda |
| HTThuntingtin | Çok sık (%80–99) | 3 durumda |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Çok sık (%80–99) | 1 durumda |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Çok sık (%80–99) | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Çok sık (%80–99) | 2 durumda |
| PDE10Aphosphodiesterase 10A | Çok sık (%80–99) | 4 durumda |
| PRNPprion protein (Kanno blood group) | Çok sık (%80–99) | 3 durumda |
| PRRT2proline rich transmembrane protein 2 | Çok sık (%80–99) | 4 durumda |
| SLC2A3solute carrier family 2 member 3 | Çok sık (%80–99) | 1 durumda |
| TSEN54tRNA splicing endonuclease subunit 54 | Çok sık (%80–99) | 1 durumda |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Çok sık (%80–99) | 1 durumda |
| APTXaprataxin | Sık (%30–79) | 1 durumda |
| ATN1atrophin 1 | Sık (%30–79) | 1 durumda |
| ATP5MKATP synthase membrane subunit k | Sık (%30–79) | 1 durumda |
| ATP7BATPase copper transporting beta | Sık (%30–79) | 1 durumda |
| ATXN1ataxin 1 | Sık (%30–79) | 2 durumda |
| ATXN2ataxin 2 | Sık (%30–79) | 1 durumda |
| CPceruloplasmin | Sık (%30–79) | 2 durumda |
| FTLferritin light chain | Sık (%30–79) | 2 durumda |
| GM2Aganglioside GM2 activator | Sık (%30–79) | 2 durumda |
| GNAO1G protein subunit alpha o1 | Sık (%30–79) | 2 durumda |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sık (%30–79) | 1 durumda |
149 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| GTPBP2GTP binding protein 2 | Sık (%30–79) | 1 durumda |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Sık (%30–79) | 1 durumda |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sık (%30–79) | 1 durumda |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sık (%30–79) | 1 durumda |
| KIF1Ckinesin family member 1C | Sık (%30–79) | 1 durumda |
| KIF5Akinesin family member 5A | Sık (%30–79) | 1 durumda |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sık (%30–79) | 1 durumda |
| MICU1mitochondrial calcium uptake 1 | Sık (%30–79) | 2 durumda |
| MRE11MRE11 double strand break repair nuclease | Sık (%30–79) | 2 durumda |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sık (%30–79) | 1 durumda |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sık (%30–79) | 1 durumda |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sık (%30–79) | 1 durumda |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sık (%30–79) | 1 durumda |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sık (%30–79) | 1 durumda |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sık (%30–79) | 1 durumda |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sık (%30–79) | 1 durumda |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sık (%30–79) | 1 durumda |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sık (%30–79) | 1 durumda |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sık (%30–79) | 1 durumda |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sık (%30–79) | 1 durumda |
| NIT1nitrilase 1 | Sık (%30–79) | 1 durumda |
| PNKDPNKD metallo-beta-lactamase domain containing | Sık (%30–79) | 1 durumda |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sık (%30–79) | 2 durumda |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sık (%30–79) | 1 durumda |
| SLC2A1solute carrier family 2 member 1 | Sık (%30–79) | 3 durumda |
| SLC32A1solute carrier family 32 member 1 | Sık (%30–79) | 1 durumda |
| SLC6A3solute carrier family 6 member 3 | Sık (%30–79) | 2 durumda |
| SLC6A8solute carrier family 6 member 8 | Sık (%30–79) | 1 durumda |
| STUB1STIP1 homology and U-box containing protein 1 | Sık (%30–79) | 1 durumda |
| TAF1TATA-box binding protein associated factor 1 | Sık (%30–79) | 2 durumda |
| TBPTATA-box binding protein | Sık (%30–79) | 2 durumda |
| TLR7toll like receptor 7 | Sık (%30–79) | 2 durumda |
| TRAPPC11trafficking protein particle complex subunit 11 | Sık (%30–79) | 3 durumda |
| TREM2triggering receptor expressed on myeloid cells 2 | Sık (%30–79) | 1 durumda |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Sık (%30–79) | 1 durumda |
| VAMP2vesicle associated membrane protein 2 | Sık (%30–79) | 1 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sık (%30–79) | 2 durumda |
| ACP5acid phosphatase 5, tartrate resistant | Bazen (%5–29) | 1 durumda |
| ADA2adenosine deaminase 2 | Bazen (%5–29) | 1 durumda |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Bazen (%5–29) | 1 durumda |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Bazen (%5–29) | 1 durumda |
| ARSAarylsulfatase A | Bazen (%5–29) | 2 durumda |
| ATP13A2ATPase cation transporting 13A2 | Bazen (%5–29) | 1 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Bazen (%5–29) | 1 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Bazen (%5–29) | 1 durumda |
| ATP7AATPase copper transporting alpha | Bazen (%5–29) | 1 durumda |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Bazen (%5–29) | 1 durumda |
| CDKL5cyclin dependent kinase like 5 | Bazen (%5–29) | 1 durumda |
| CHMP1Acharged multivesicular body protein 1A | Bazen (%5–29) | 1 durumda |
| CICcapicua transcriptional repressor | Bazen (%5–29) | 1 durumda |
| CTDP1CTD phosphatase 1 | Bazen (%5–29) | 2 durumda |
| DHX30DExH-box helicase 30 | Bazen (%5–29) | 1 durumda |
| DPYSL5dihydropyrimidinase like 5 | Bazen (%5–29) | 1 durumda |
| ERLIN1ER lipid raft associated 1 | Bazen (%5–29) | 1 durumda |
| FBXO28F-box protein 28 | Bazen (%5–29) | 1 durumda |
| FUSFUS RNA binding protein | Bazen (%5–29) | 1 durumda |
| GAMTguanidinoacetate N-methyltransferase | Bazen (%5–29) | 1 durumda |
| GCDHglutaryl-CoA dehydrogenase | Bazen (%5–29) | 1 durumda |
| GLYCTKglycerate kinase | Bazen (%5–29) | 1 durumda |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bazen (%5–29) | 1 durumda |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Bazen (%5–29) | 1 durumda |
| HCFC1host cell factor C1 | Bazen (%5–29) | 1 durumda |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Bazen (%5–29) | 1 durumda |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Bazen (%5–29) | 1 durumda |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Bazen (%5–29) | 2 durumda |
| MMUTmethylmalonyl-CoA mutase | Bazen (%5–29) | 1 durumda |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Bazen (%5–29) | 1 durumda |
| MYORGmyogenesis regulating glycosidase | Bazen (%5–29) | 2 durumda |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Bazen (%5–29) | 2 durumda |
| NAXDNAD(P)HX dehydratase | Bazen (%5–29) | 1 durumda |
| NGLY1N-glycanase 1 | Bazen (%5–29) | 2 durumda |
| NPTX1neuronal pentraxin 1 | Bazen (%5–29) | 1 durumda |
| PDGFBplatelet derived growth factor subunit B | Bazen (%5–29) | 2 durumda |
| PSAPprosaposin | Bazen (%5–29) | 1 durumda |
| PTS6-pyruvoyltetrahydropterin synthase | Bazen (%5–29) | 1 durumda |
| RHOBTB2Rho related BTB domain containing 2 | Bazen (%5–29) | 2 durumda |
| RNF216ring finger protein 216 | Bazen (%5–29) | 1 durumda |
| RRP12ribosomal RNA processing 12 homolog | Bazen (%5–29) | 1 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Bazen (%5–29) | 1 durumda |
| SETXsenataxin | Bazen (%5–29) | 1 durumda |
| SIGMAR1sigma receptor chaperone 1 | Bazen (%5–29) | 1 durumda |
| SLC19A3solute carrier family 19 member 3 | Bazen (%5–29) | 1 durumda |
| SLC1A3solute carrier family 1 member 3 | Bazen (%5–29) | 1 durumda |
| SLC4A10solute carrier family 4 member 10 | Bazen (%5–29) | 1 durumda |
| SORDsorbitol dehydrogenase | Bazen (%5–29) | 1 durumda |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Bazen (%5–29) | 1 durumda |
| SPOPspeckle type BTB/POZ protein | Bazen (%5–29) | 1 durumda |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Bazen (%5–29) | 1 durumda |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Bazen (%5–29) | 1 durumda |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Bazen (%5–29) | 1 durumda |
| SYT1synaptotagmin 1 | Bazen (%5–29) | 1 durumda |
| TARDBPTAR DNA binding protein | Bazen (%5–29) | 1 durumda |
| TNFAIP3TNF alpha induced protein 3 | Bazen (%5–29) | 2 durumda |
| TRMT2BtRNA methyltransferase 2B | Bazen (%5–29) | 1 durumda |
| TTI1TELO2 interacting protein 1 | Bazen (%5–29) | 1 durumda |
| UBQLN2ubiquilin 2 | Bazen (%5–29) | 1 durumda |
| UBTFupstream binding transcription factor | Bazen (%5–29) | 2 durumda |
| VPS4Avacuolar protein sorting 4 homolog A | Bazen (%5–29) | 1 durumda |
| WSB2WD repeat and SOCS box containing 2 | Bazen (%5–29) | 1 durumda |
| ZNF142zinc finger protein 142 | Bazen (%5–29) | 1 durumda |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Seyrek (%1–4) | 1 durumda |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Seyrek (%1–4) | 1 durumda |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Seyrek (%1–4) | 1 durumda |
| C4Acomplement C4A (Chido/Rodgers blood group) | Seyrek (%1–4) | 1 durumda |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Seyrek (%1–4) | 1 durumda |
| CLCN4Cl-/H+ antiporter 4 | Seyrek (%1–4) | 1 durumda |
| CR2complement C3d receptor 2 | Seyrek (%1–4) | 1 durumda |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Seyrek (%1–4) | 1 durumda |
| DNASE1deoxyribonuclease 1 | Seyrek (%1–4) | 1 durumda |
| DYSFdysferlin | Seyrek (%1–4) | 1 durumda |
| ETS1ETS proto-oncogene 1, transcription factor | Seyrek (%1–4) | 1 durumda |
| FCGR2BFc gamma receptor IIb | Seyrek (%1–4) | 1 durumda |
| FCGR3BFc gamma receptor IIIb | Seyrek (%1–4) | 1 durumda |
| FXNfrataxin | Seyrek (%1–4) | 1 durumda |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Seyrek (%1–4) | 1 durumda |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Seyrek (%1–4) | 1 durumda |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Seyrek (%1–4) | 1 durumda |
| IL10interleukin 10 | Seyrek (%1–4) | 1 durumda |
| IRAK1interleukin 1 receptor associated kinase 1 | Seyrek (%1–4) | 1 durumda |
| IRF5interferon regulatory factor 5 | Seyrek (%1–4) | 1 durumda |
| ITGAMintegrin subunit alpha M | Seyrek (%1–4) | 1 durumda |
| JAZF1JAZF zinc finger 1 | Seyrek (%1–4) | 1 durumda |
| KIAA0319LKIAA0319 like | Seyrek (%1–4) | 1 durumda |
| PDCD1programmed cell death 1 | Seyrek (%1–4) | 1 durumda |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Seyrek (%1–4) | 1 durumda |
| PXKPX domain containing serine/threonine kinase like | Seyrek (%1–4) | 1 durumda |
| SPP1secreted phosphoprotein 1 | Seyrek (%1–4) | 1 durumda |
| STAT4signal transducer and activator of transcription 4 | Seyrek (%1–4) | 1 durumda |
| TNFSF4TNF superfamily member 4 | Seyrek (%1–4) | 1 durumda |
| TNIP1TNFAIP3 interacting protein 1 | Seyrek (%1–4) | 1 durumda |
| TREX1three prime repair exonuclease 1 | Seyrek (%1–4) | 1 durumda |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Seyrek (%1–4) | 1 durumda |
| ACAT2acetyl-CoA acetyltransferase 2 | Kaydedilmedi | 1 durumda |
| ATXN7ataxin 7 | Kaydedilmedi | 1 durumda |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Kaydedilmedi | 1 durumda |
| FOXG1forkhead box G1 | Kaydedilmedi | 1 durumda |
| GPR88G protein-coupled receptor 88 | Kaydedilmedi | 1 durumda |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Kaydedilmedi | 2 durumda |
| JAM2junctional adhesion molecule 2 | Kaydedilmedi | 1 durumda |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Kaydedilmedi | 1 durumda |
| PDGFRBplatelet derived growth factor receptor beta | Kaydedilmedi | 1 durumda |
| PITX3paired like homeodomain 3 | Kaydedilmedi | 1 durumda |
| PLA2G6phospholipase A2 group VI | Kaydedilmedi | 1 durumda |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Kaydedilmedi | 1 durumda |
| SLC20A2solute carrier family 20 member 2 | Kaydedilmedi | 1 durumda |
| TSEN34tRNA splicing endonuclease subunit 34 | Kaydedilmedi | 1 durumda |
| UGDHUDP-glucose 6-dehydrogenase | Kaydedilmedi | 1 durumda |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
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$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde