Piirre
Disorder of involuntary muscle movements
Kliininen nimi: Dyskinesia
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Yhteenveto
- Tunnetaan myös nimellä
- Dyskinesis
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test200 geeniä, jotka liittyvät piirteeseen Disorder of involuntary muscle movements
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Disorder of involuntary muscle movements esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| DAND5DAN domain BMP antagonist family member 5 | Aina | 1 sairaudessa |
| DEAF1DEAF1 transcription factor | Aina | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Aina | 1 sairaudessa |
| IREB2iron responsive element binding protein 2 | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Aina | 1 sairaudessa |
| MRM2mitochondrial rRNA methyltransferase 2 | Aina | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Aina | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Aina | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Aina | 1 sairaudessa |
| SLC25A10solute carrier family 25 member 10 | Aina | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Aina | 4 sairaudessa |
| SLC30A9solute carrier family 30 member 9 | Aina | 1 sairaudessa |
| SUOXsulfite oxidase | Aina | 1 sairaudessa |
| TMEM63Btransmembrane protein 63B | Aina | 1 sairaudessa |
| UNC13Aunc-13 homolog A | Aina | 1 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Aina | 1 sairaudessa |
| AGAaspartylglucosaminidase | Hyvin usein (80–99%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ADCY5adenylate cyclase 5 | Usein (30–79%) | 1 sairaudessa |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Usein (30–79%) | 2 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Usein (30–79%) | 1 sairaudessa |
| ATXN10ataxin 10 | Usein (30–79%) | 1 sairaudessa |
| CHKAcholine kinase alpha | Usein (30–79%) | 1 sairaudessa |
| COX11cytochrome c oxidase copper chaperone COX11 | Usein (30–79%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Usein (30–79%) | 2 sairaudessa |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Usein (30–79%) | 1 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Usein (30–79%) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Usein (30–79%) | 3 sairaudessa |
| HTRA2HtrA serine peptidase 2 | Usein (30–79%) | 1 sairaudessa |
| LRRK2leucine rich repeat kinase 2 | Usein (30–79%) | 2 sairaudessa |
| MDH2malate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Usein (30–79%) | 2 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Usein (30–79%) | 1 sairaudessa |
Näytä 160 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Usein (30–79%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Usein (30–79%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Usein (30–79%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 1 sairaudessa |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Usein (30–79%) | 1 sairaudessa |
| PARK7Parkinsonism associated deglycase | Usein (30–79%) | 2 sairaudessa |
| PINK1PTEN induced kinase 1 | Usein (30–79%) | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| PODXLpodocalyxin like | Usein (30–79%) | 1 sairaudessa |
| POLR3KRNA polymerase III subunit K | Usein (30–79%) | 1 sairaudessa |
| PRKNparkin RBR E3 ubiquitin protein ligase | Usein (30–79%) | 1 sairaudessa |
| RAB32RAB32, member RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Usein (30–79%) | 1 sairaudessa |
| SLC39A14solute carrier family 39 member 14 | Usein (30–79%) | 1 sairaudessa |
| SLC6A3solute carrier family 6 member 3 | Usein (30–79%) | 1 sairaudessa |
| SNCAsynuclein alpha | Usein (30–79%) | 2 sairaudessa |
| SQSTM1sequestosome 1 | Usein (30–79%) | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Usein (30–79%) | 2 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Usein (30–79%) | 1 sairaudessa |
| VPS13Cvacuolar protein sorting 13 homolog C | Usein (30–79%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| ACTL6Bactin like 6B | Joskus (5–29%) | 1 sairaudessa |
| ARXaristaless related homeobox | Joskus (5–29%) | 2 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| ATMATM serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Joskus (5–29%) | 1 sairaudessa |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Joskus (5–29%) | 2 sairaudessa |
| BCAS3BCAS3 microtubule associated cell migration factor | Joskus (5–29%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Joskus (5–29%) | 1 sairaudessa |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Joskus (5–29%) | 2 sairaudessa |
| CDK19cyclin dependent kinase 19 | Joskus (5–29%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| CELF2CUGBP Elav-like family member 2 | Joskus (5–29%) | 1 sairaudessa |
| CHEK2checkpoint kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| CLTCclathrin heavy chain | Joskus (5–29%) | 1 sairaudessa |
| CMPK2cytidine/uridine monophosphate kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Joskus (5–29%) | 1 sairaudessa |
| CUX2cut like homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| DDCdopa decarboxylase | Joskus (5–29%) | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Joskus (5–29%) | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Joskus (5–29%) | 1 sairaudessa |
| DMXL2Dmx like 2 | Joskus (5–29%) | 1 sairaudessa |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Joskus (5–29%) | 1 sairaudessa |
| DNM1dynamin 1 | Joskus (5–29%) | 1 sairaudessa |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| EPCAMepithelial cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| FBXO28F-box protein 28 | Joskus (5–29%) | 2 sairaudessa |
| FGF12fibroblast growth factor 12 | Joskus (5–29%) | 1 sairaudessa |
| FOXG1forkhead box G1 | Joskus (5–29%) | 2 sairaudessa |
| FZR1fizzy and cell division cycle 20 related 1 | Joskus (5–29%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Joskus (5–29%) | 1 sairaudessa |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Joskus (5–29%) | 1 sairaudessa |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Joskus (5–29%) | 2 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Joskus (5–29%) | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Joskus (5–29%) | 1 sairaudessa |
| GIGYF2GRB10 interacting GYF protein 2 | Joskus (5–29%) | 1 sairaudessa |
| GNAO1G protein subunit alpha o1 | Joskus (5–29%) | 2 sairaudessa |
| GNASGNAS complex locus | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Joskus (5–29%) | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Joskus (5–29%) | 1 sairaudessa |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Joskus (5–29%) | 1 sairaudessa |
| JAM2junctional adhesion molecule 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Joskus (5–29%) | 1 sairaudessa |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Joskus (5–29%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Joskus (5–29%) | 1 sairaudessa |
| MLH1mutL homolog 1 | Joskus (5–29%) | 1 sairaudessa |
| MSH2mutS homolog 2 | Joskus (5–29%) | 1 sairaudessa |
| MSH6mutS homolog 6 | Joskus (5–29%) | 1 sairaudessa |
| MUTYHmutY DNA glycosylase | Joskus (5–29%) | 1 sairaudessa |
| MYORGmyogenesis regulating glycosidase | Joskus (5–29%) | 1 sairaudessa |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NECAP1NECAP endocytosis associated 1 | Joskus (5–29%) | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Joskus (5–29%) | 1 sairaudessa |
| NPATnuclear protein, coactivator of histone transcription | Joskus (5–29%) | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Joskus (5–29%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| PDGFBplatelet derived growth factor subunit B | Joskus (5–29%) | 2 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Joskus (5–29%) | 1 sairaudessa |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Joskus (5–29%) | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Joskus (5–29%) | 1 sairaudessa |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PMS1PMS1 homolog 1, mismatch repair system component | Joskus (5–29%) | 1 sairaudessa |
| PMS2PMS1 homolog 2, mismatch repair system component | Joskus (5–29%) | 1 sairaudessa |
| PNKDPNKD metallo-beta-lactamase domain containing | Joskus (5–29%) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| POLD1DNA polymerase delta 1, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| POLEDNA polymerase epsilon, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| RPS20ribosomal protein S20 | Joskus (5–29%) | 1 sairaudessa |
| RRP12ribosomal RNA processing 12 homolog | Joskus (5–29%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Joskus (5–29%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Joskus (5–29%) | 1 sairaudessa |
| SIK1salt inducible kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC20A2solute carrier family 20 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Joskus (5–29%) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC38A3solute carrier family 38 member 3 | Joskus (5–29%) | 1 sairaudessa |
| STX16syntaxin 16 | Joskus (5–29%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SZT2SZT2 subunit of KICSTOR complex | Joskus (5–29%) | 1 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| TRAK1trafficking kinesin protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Joskus (5–29%) | 1 sairaudessa |
| UBA5ubiquitin like modifier activating enzyme 5 | Joskus (5–29%) | 1 sairaudessa |
| UFSP2UFM1 specific peptidase 2 | Joskus (5–29%) | 1 sairaudessa |
| UNC80unc-80 subunit of NALCN channel complex | Joskus (5–29%) | 1 sairaudessa |
| VPS35VPS35 retromer complex component | Joskus (5–29%) | 2 sairaudessa |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Joskus (5–29%) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harvinainen (1–4 %) | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FTLferritin light chain | Ei kirjattu | 1 sairaudessa |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ei kirjattu | 1 sairaudessa |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ei kirjattu | 2 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ei kirjattu | 1 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ei kirjattu | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Ei kirjattu | 1 sairaudessa |
| PDE10Aphosphodiesterase 10A | Ei kirjattu | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ei kirjattu | 1 sairaudessa |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ei kirjattu | 1 sairaudessa |
| RAB39BRAB39B, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
| SLC46A1solute carrier family 46 member 1 | Ei kirjattu | 1 sairaudessa |
| SYT1synaptotagmin 1 | Ei kirjattu | 1 sairaudessa |
| TMEM43transmembrane protein 43 | Ei kirjattu | 1 sairaudessa |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ei kirjattu | 1 sairaudessa |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa