Cecha
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.
Podsumowanie
- Znana także jako
- Choreic movements, Choreiform movements
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Chorea, and the rest of your genome, with one test.
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Zamawiam Genome Test189 genów powiązanych z Chorea
Zmiany w tych genach powodują rzadkie choroby, w których występuje Chorea. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| ADCY5adenylate cyclase 5 | Zawsze | W 2 chorobach |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zawsze | W 1 chorobie |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| FRRS1Lferric chelate reductase 1 like | Zawsze | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| JPH3junctophilin 3 | Zawsze | W 2 chorobach |
| MRM2mitochondrial rRNA methyltransferase 2 | Zawsze | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Zawsze | W 2 chorobach |
| NUP54nucleoporin 54 | Zawsze | W 1 chorobie |
| PANK2pantothenate kinase 2 | Zawsze | W 2 chorobach |
| PDE2Aphosphodiesterase 2A | Zawsze | W 1 chorobie |
| PSMC1proteasome 26S subunit, ATPase 1 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Zawsze | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Zawsze | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Zawsze | W 2 chorobach |
| HTThuntingtin | Bardzo często (80–99%) | W 3 chorobach |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Bardzo często (80–99%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Bardzo często (80–99%) | W 2 chorobach |
| PDE10Aphosphodiesterase 10A | Bardzo często (80–99%) | W 4 chorobach |
| PRNPprion protein (Kanno blood group) | Bardzo często (80–99%) | W 3 chorobach |
| PRRT2proline rich transmembrane protein 2 | Bardzo często (80–99%) | W 4 chorobach |
| SLC2A3solute carrier family 2 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Bardzo często (80–99%) | W 1 chorobie |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Bardzo często (80–99%) | W 1 chorobie |
| APTXaprataxin | Często (30–79%) | W 1 chorobie |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Często (30–79%) | W 1 chorobie |
| ATP7BATPase copper transporting beta | Często (30–79%) | W 1 chorobie |
| ATXN1ataxin 1 | Często (30–79%) | W 2 chorobach |
| ATXN2ataxin 2 | Często (30–79%) | W 1 chorobie |
| CPceruloplasmin | Często (30–79%) | W 2 chorobach |
| FTLferritin light chain | Często (30–79%) | W 2 chorobach |
| GM2Aganglioside GM2 activator | Często (30–79%) | W 2 chorobach |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 2 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 149 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Często (30–79%) | W 1 chorobie |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Często (30–79%) | W 1 chorobie |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Często (30–79%) | W 1 chorobie |
| KIF1Ckinesin family member 1C | Często (30–79%) | W 1 chorobie |
| KIF5Akinesin family member 5A | Często (30–79%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Często (30–79%) | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Często (30–79%) | W 2 chorobach |
| MRE11MRE11 double strand break repair nuclease | Często (30–79%) | W 2 chorobach |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Często (30–79%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Często (30–79%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Często (30–79%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 1 chorobie |
| NIT1nitrilase 1 | Często (30–79%) | W 1 chorobie |
| PNKDPNKD metallo-beta-lactamase domain containing | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 2 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Często (30–79%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 3 chorobach |
| SLC32A1solute carrier family 32 member 1 | Często (30–79%) | W 1 chorobie |
| SLC6A3solute carrier family 6 member 3 | Często (30–79%) | W 2 chorobach |
| SLC6A8solute carrier family 6 member 8 | Często (30–79%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| TBPTATA-box binding protein | Często (30–79%) | W 2 chorobach |
| TLR7toll like receptor 7 | Często (30–79%) | W 2 chorobach |
| TRAPPC11trafficking protein particle complex subunit 11 | Często (30–79%) | W 3 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 1 chorobie |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Często (30–79%) | W 1 chorobie |
| VAMP2vesicle associated membrane protein 2 | Często (30–79%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| ACP5acid phosphatase 5, tartrate resistant | Czasami (5–29%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Czasami (5–29%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Czasami (5–29%) | W 1 chorobie |
| ARSAarylsulfatase A | Czasami (5–29%) | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Czasami (5–29%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| CICcapicua transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Czasami (5–29%) | W 2 chorobach |
| DHX30DExH-box helicase 30 | Czasami (5–29%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Czasami (5–29%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FUSFUS RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| GLYCTKglycerate kinase | Czasami (5–29%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Czasami (5–29%) | W 1 chorobie |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Czasami (5–29%) | W 1 chorobie |
| HCFC1host cell factor C1 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Czasami (5–29%) | W 1 chorobie |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 2 chorobach |
| MMUTmethylmalonyl-CoA mutase | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Czasami (5–29%) | W 2 chorobach |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Czasami (5–29%) | W 2 chorobach |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Czasami (5–29%) | W 2 chorobach |
| NPTX1neuronal pentraxin 1 | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 2 chorobach |
| PSAPprosaposin | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 2 chorobach |
| RNF216ring finger protein 216 | Czasami (5–29%) | W 1 chorobie |
| RRP12ribosomal RNA processing 12 homolog | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SETXsenataxin | Czasami (5–29%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Czasami (5–29%) | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC4A10solute carrier family 4 member 10 | Czasami (5–29%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Czasami (5–29%) | W 1 chorobie |
| SPOPspeckle type BTB/POZ protein | Czasami (5–29%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYT1synaptotagmin 1 | Czasami (5–29%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Czasami (5–29%) | W 1 chorobie |
| TNFAIP3TNF alpha induced protein 3 | Czasami (5–29%) | W 2 chorobach |
| TRMT2BtRNA methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| TTI1TELO2 interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Czasami (5–29%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Czasami (5–29%) | W 2 chorobach |
| VPS4Avacuolar protein sorting 4 homolog A | Czasami (5–29%) | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Czasami (5–29%) | W 1 chorobie |
| ZNF142zinc finger protein 142 | Czasami (5–29%) | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Rzadko (1–4%) | W 1 chorobie |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Rzadko (1–4%) | W 1 chorobie |
| C4Acomplement C4A (Chido/Rodgers blood group) | Rzadko (1–4%) | W 1 chorobie |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Rzadko (1–4%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Rzadko (1–4%) | W 1 chorobie |
| CR2complement C3d receptor 2 | Rzadko (1–4%) | W 1 chorobie |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Rzadko (1–4%) | W 1 chorobie |
| DNASE1deoxyribonuclease 1 | Rzadko (1–4%) | W 1 chorobie |
| DYSFdysferlin | Rzadko (1–4%) | W 1 chorobie |
| ETS1ETS proto-oncogene 1, transcription factor | Rzadko (1–4%) | W 1 chorobie |
| FCGR2BFc gamma receptor IIb | Rzadko (1–4%) | W 1 chorobie |
| FCGR3BFc gamma receptor IIIb | Rzadko (1–4%) | W 1 chorobie |
| FXNfrataxin | Rzadko (1–4%) | W 1 chorobie |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Rzadko (1–4%) | W 1 chorobie |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Rzadko (1–4%) | W 1 chorobie |
| IL10interleukin 10 | Rzadko (1–4%) | W 1 chorobie |
| IRAK1interleukin 1 receptor associated kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Rzadko (1–4%) | W 1 chorobie |
| ITGAMintegrin subunit alpha M | Rzadko (1–4%) | W 1 chorobie |
| JAZF1JAZF zinc finger 1 | Rzadko (1–4%) | W 1 chorobie |
| KIAA0319LKIAA0319 like | Rzadko (1–4%) | W 1 chorobie |
| PDCD1programmed cell death 1 | Rzadko (1–4%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Rzadko (1–4%) | W 1 chorobie |
| PXKPX domain containing serine/threonine kinase like | Rzadko (1–4%) | W 1 chorobie |
| SPP1secreted phosphoprotein 1 | Rzadko (1–4%) | W 1 chorobie |
| STAT4signal transducer and activator of transcription 4 | Rzadko (1–4%) | W 1 chorobie |
| TNFSF4TNF superfamily member 4 | Rzadko (1–4%) | W 1 chorobie |
| TNIP1TNFAIP3 interacting protein 1 | Rzadko (1–4%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Rzadko (1–4%) | W 1 chorobie |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Rzadko (1–4%) | W 1 chorobie |
| ACAT2acetyl-CoA acetyltransferase 2 | Nie odnotowano | W 1 chorobie |
| ATXN7ataxin 7 | Nie odnotowano | W 1 chorobie |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Nie odnotowano | W 1 chorobie |
| FOXG1forkhead box G1 | Nie odnotowano | W 1 chorobie |
| GPR88G protein-coupled receptor 88 | Nie odnotowano | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Nie odnotowano | W 2 chorobach |
| JAM2junctional adhesion molecule 2 | Nie odnotowano | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nie odnotowano | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Nie odnotowano | W 1 chorobie |
| PITX3paired like homeodomain 3 | Nie odnotowano | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Nie odnotowano | W 1 chorobie |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nie odnotowano | W 1 chorobie |
| SLC20A2solute carrier family 20 member 2 | Nie odnotowano | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Nie odnotowano | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Nie odnotowano | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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