Kenmerk
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.
Samenvatting
- Ook bekend als
- Choreic movements, Choreiform movements
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Chorea voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Altijd | In 2 aandoeningen |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Altijd | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| FRRS1Lferric chelate reductase 1 like | Altijd | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Altijd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| JPH3junctophilin 3 | Altijd | In 2 aandoeningen |
| MRM2mitochondrial rRNA methyltransferase 2 | Altijd | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Altijd | In 2 aandoeningen |
| NUP54nucleoporin 54 | Altijd | In 1 aandoening |
| PANK2pantothenate kinase 2 | Altijd | In 2 aandoeningen |
| PDE2Aphosphodiesterase 2A | Altijd | In 1 aandoening |
| PSMC1proteasome 26S subunit, ATPase 1 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Altijd | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Altijd | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Altijd | In 2 aandoeningen |
| HTThuntingtin | Heel vaak (80–99%) | In 3 aandoeningen |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Heel vaak (80–99%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PDE10Aphosphodiesterase 10A | Heel vaak (80–99%) | In 4 aandoeningen |
| PRNPprion protein (Kanno blood group) | Heel vaak (80–99%) | In 3 aandoeningen |
| PRRT2proline rich transmembrane protein 2 | Heel vaak (80–99%) | In 4 aandoeningen |
| SLC2A3solute carrier family 2 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Heel vaak (80–99%) | In 1 aandoening |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Heel vaak (80–99%) | In 1 aandoening |
| APTXaprataxin | Vaak (30–79%) | In 1 aandoening |
| ATN1atrophin 1 | Vaak (30–79%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP7BATPase copper transporting beta | Vaak (30–79%) | In 1 aandoening |
| ATXN1ataxin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| CPceruloplasmin | Vaak (30–79%) | In 2 aandoeningen |
| FTLferritin light chain | Vaak (30–79%) | In 2 aandoeningen |
| GM2Aganglioside GM2 activator | Vaak (30–79%) | In 2 aandoeningen |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 2 aandoeningen |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 1 aandoening |
Toon nog 149 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Vaak (30–79%) | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Vaak (30–79%) | In 1 aandoening |
| KIF1Ckinesin family member 1C | Vaak (30–79%) | In 1 aandoening |
| KIF5Akinesin family member 5A | Vaak (30–79%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Vaak (30–79%) | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Vaak (30–79%) | In 2 aandoeningen |
| MRE11MRE11 double strand break repair nuclease | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Vaak (30–79%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| NIT1nitrilase 1 | Vaak (30–79%) | In 1 aandoening |
| PNKDPNKD metallo-beta-lactamase domain containing | Vaak (30–79%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 3 aandoeningen |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC6A3solute carrier family 6 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SLC6A8solute carrier family 6 member 8 | Vaak (30–79%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TBPTATA-box binding protein | Vaak (30–79%) | In 2 aandoeningen |
| TLR7toll like receptor 7 | Vaak (30–79%) | In 2 aandoeningen |
| TRAPPC11trafficking protein particle complex subunit 11 | Vaak (30–79%) | In 3 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Vaak (30–79%) | In 1 aandoening |
| VAMP2vesicle associated membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| ACP5acid phosphatase 5, tartrate resistant | Soms (5–29%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Soms (5–29%) | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Soms (5–29%) | In 1 aandoening |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Soms (5–29%) | In 1 aandoening |
| ARSAarylsulfatase A | Soms (5–29%) | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CICcapicua transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Soms (5–29%) | In 2 aandoeningen |
| DHX30DExH-box helicase 30 | Soms (5–29%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FUSFUS RNA binding protein | Soms (5–29%) | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Soms (5–29%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| GLYCTKglycerate kinase | Soms (5–29%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Soms (5–29%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Soms (5–29%) | In 1 aandoening |
| HCFC1host cell factor C1 | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Soms (5–29%) | In 1 aandoening |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 2 aandoeningen |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Soms (5–29%) | In 1 aandoening |
| MYORGmyogenesis regulating glycosidase | Soms (5–29%) | In 2 aandoeningen |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| NAXDNAD(P)HX dehydratase | Soms (5–29%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Soms (5–29%) | In 2 aandoeningen |
| NPTX1neuronal pentraxin 1 | Soms (5–29%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 2 aandoeningen |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 2 aandoeningen |
| RNF216ring finger protein 216 | Soms (5–29%) | In 1 aandoening |
| RRP12ribosomal RNA processing 12 homolog | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SETXsenataxin | Soms (5–29%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Soms (5–29%) | In 1 aandoening |
| SLC19A3solute carrier family 19 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Soms (5–29%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Soms (5–29%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Soms (5–29%) | In 1 aandoening |
| TNFAIP3TNF alpha induced protein 3 | Soms (5–29%) | In 2 aandoeningen |
| TRMT2BtRNA methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| TTI1TELO2 interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Soms (5–29%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Soms (5–29%) | In 2 aandoeningen |
| VPS4Avacuolar protein sorting 4 homolog A | Soms (5–29%) | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF142zinc finger protein 142 | Soms (5–29%) | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zelden (1–4%) | In 1 aandoening |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Zelden (1–4%) | In 1 aandoening |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Zelden (1–4%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Zelden (1–4%) | In 1 aandoening |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Zelden (1–4%) | In 1 aandoening |
| CLCN4Cl-/H+ antiporter 4 | Zelden (1–4%) | In 1 aandoening |
| CR2complement C3d receptor 2 | Zelden (1–4%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Zelden (1–4%) | In 1 aandoening |
| DNASE1deoxyribonuclease 1 | Zelden (1–4%) | In 1 aandoening |
| DYSFdysferlin | Zelden (1–4%) | In 1 aandoening |
| ETS1ETS proto-oncogene 1, transcription factor | Zelden (1–4%) | In 1 aandoening |
| FCGR2BFc gamma receptor IIb | Zelden (1–4%) | In 1 aandoening |
| FCGR3BFc gamma receptor IIIb | Zelden (1–4%) | In 1 aandoening |
| FXNfrataxin | Zelden (1–4%) | In 1 aandoening |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Zelden (1–4%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Zelden (1–4%) | In 1 aandoening |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Zelden (1–4%) | In 1 aandoening |
| IL10interleukin 10 | Zelden (1–4%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Zelden (1–4%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Zelden (1–4%) | In 1 aandoening |
| ITGAMintegrin subunit alpha M | Zelden (1–4%) | In 1 aandoening |
| JAZF1JAZF zinc finger 1 | Zelden (1–4%) | In 1 aandoening |
| KIAA0319LKIAA0319 like | Zelden (1–4%) | In 1 aandoening |
| PDCD1programmed cell death 1 | Zelden (1–4%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Zelden (1–4%) | In 1 aandoening |
| PXKPX domain containing serine/threonine kinase like | Zelden (1–4%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Zelden (1–4%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Zelden (1–4%) | In 1 aandoening |
| TNFSF4TNF superfamily member 4 | Zelden (1–4%) | In 1 aandoening |
| TNIP1TNFAIP3 interacting protein 1 | Zelden (1–4%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Zelden (1–4%) | In 1 aandoening |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Zelden (1–4%) | In 1 aandoening |
| ACAT2acetyl-CoA acetyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| ATXN7ataxin 7 | Niet vastgelegd | In 1 aandoening |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Niet vastgelegd | In 1 aandoening |
| FOXG1forkhead box G1 | Niet vastgelegd | In 1 aandoening |
| GPR88G protein-coupled receptor 88 | Niet vastgelegd | In 1 aandoening |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Niet vastgelegd | In 2 aandoeningen |
| JAM2junctional adhesion molecule 2 | Niet vastgelegd | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Niet vastgelegd | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Niet vastgelegd | In 1 aandoening |
| PITX3paired like homeodomain 3 | Niet vastgelegd | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Niet vastgelegd | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Niet vastgelegd | In 1 aandoening |
| SLC20A2solute carrier family 20 member 2 | Niet vastgelegd | In 1 aandoening |
| TSEN34tRNA splicing endonuclease subunit 34 | Niet vastgelegd | In 1 aandoening |
| UGDHUDP-glucose 6-dehydrogenase | Niet vastgelegd | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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