Cecha
Disorder of involuntary muscle movements
Nazwa kliniczna: Dyskinesia
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Podsumowanie
- Znana także jako
- Dyskinesis
- 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 Disorder of involuntary muscle movements, and the rest of your genome, with one test.
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Zamawiam Genome Test200 genów powiązanych z Disorder of involuntary muscle movements
Zmiany w tych genach powodują rzadkie choroby, w których występuje Disorder of involuntary muscle movements. 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 |
|---|---|---|
| DAND5DAN domain BMP antagonist family member 5 | Zawsze | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Zawsze | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 1 chorobie |
| MRM2mitochondrial rRNA methyltransferase 2 | Zawsze | W 1 chorobie |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Zawsze | W 1 chorobie |
| SLC25A10solute carrier family 25 member 10 | Zawsze | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 4 chorobach |
| SLC30A9solute carrier family 30 member 9 | Zawsze | W 1 chorobie |
| SUOXsulfite oxidase | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Zawsze | W 1 chorobie |
| AGAaspartylglucosaminidase | Bardzo często (80–99%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Bardzo często (80–99%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Bardzo często (80–99%) | W 2 chorobach |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Bardzo często (80–99%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Bardzo często (80–99%) | W 2 chorobach |
| ADCY5adenylate cyclase 5 | Często (30–79%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Często (30–79%) | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Często (30–79%) | W 1 chorobie |
| ATXN10ataxin 10 | Często (30–79%) | W 1 chorobie |
| CHKAcholine kinase alpha | Często (30–79%) | W 1 chorobie |
| COX11cytochrome c oxidase copper chaperone COX11 | Często (30–79%) | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Często (30–79%) | W 2 chorobach |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Często (30–79%) | W 1 chorobie |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Często (30–79%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 3 chorobach |
| HTRA2HtrA serine peptidase 2 | Często (30–79%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Często (30–79%) | W 2 chorobach |
| MDH2malate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | 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 |
Pokaż jeszcze 160 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| 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 |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Często (30–79%) | W 1 chorobie |
| PARK7Parkinsonism associated deglycase | Często (30–79%) | W 2 chorobach |
| PINK1PTEN induced kinase 1 | Często (30–79%) | W 1 chorobie |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Często (30–79%) | W 1 chorobie |
| PODXLpodocalyxin like | Często (30–79%) | W 1 chorobie |
| POLR3KRNA polymerase III subunit K | Często (30–79%) | W 1 chorobie |
| PRKNparkin RBR E3 ubiquitin protein ligase | Często (30–79%) | W 1 chorobie |
| RAB32RAB32, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Często (30–79%) | W 1 chorobie |
| SLC6A3solute carrier family 6 member 3 | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 2 chorobach |
| SQSTM1sequestosome 1 | Często (30–79%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Często (30–79%) | W 2 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Często (30–79%) | W 1 chorobie |
| VPS13Cvacuolar protein sorting 13 homolog C | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ARXaristaless related homeobox | Czasami (5–29%) | W 2 chorobach |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| ATMATM serine/threonine kinase | 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 |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| BCAS3BCAS3 microtubule associated cell migration factor | Czasami (5–29%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Czasami (5–29%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Czasami (5–29%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Czasami (5–29%) | W 2 chorobach |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Czasami (5–29%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Czasami (5–29%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CMPK2cytidine/uridine monophosphate kinase 2 | Czasami (5–29%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| CUX2cut like homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DDCdopa decarboxylase | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DMXL2Dmx like 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Czasami (5–29%) | W 1 chorobie |
| DNM1dynamin 1 | Czasami (5–29%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Czasami (5–29%) | W 1 chorobie |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Czasami (5–29%) | W 1 chorobie |
| EPCAMepithelial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 2 chorobach |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 2 chorobach |
| FZR1fizzy and cell division cycle 20 related 1 | Czasami (5–29%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 2 chorobach |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 1 chorobie |
| GIGYF2GRB10 interacting GYF protein 2 | Czasami (5–29%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Czasami (5–29%) | W 2 chorobach |
| GNASGNAS complex locus | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Czasami (5–29%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MLH1mutL homolog 1 | Czasami (5–29%) | W 1 chorobie |
| MSH2mutS homolog 2 | Czasami (5–29%) | W 1 chorobie |
| MSH6mutS homolog 6 | Czasami (5–29%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Czasami (5–29%) | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Czasami (5–29%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Czasami (5–29%) | W 1 chorobie |
| NPATnuclear protein, coactivator of histone transcription | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Czasami (5–29%) | W 2 chorobach |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Czasami (5–29%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PMS1PMS1 homolog 1, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| PNKDPNKD metallo-beta-lactamase domain containing | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RPS20ribosomal protein S20 | 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 |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Czasami (5–29%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Czasami (5–29%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC20A2solute carrier family 20 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| STX16syntaxin 16 | Czasami (5–29%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Czasami (5–29%) | W 1 chorobie |
| VPS35VPS35 retromer complex component | Czasami (5–29%) | W 2 chorobach |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Rzadko (1–4%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Rzadko (1–4%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| FTLferritin light chain | Nie odnotowano | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Nie odnotowano | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Nie odnotowano | W 2 chorobach |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Nie odnotowano | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Nie odnotowano | W 1 chorobie |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Nie odnotowano | W 1 chorobie |
| PDE10Aphosphodiesterase 10A | Nie odnotowano | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Nie odnotowano | W 1 chorobie |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Nie odnotowano | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| SLC46A1solute carrier family 46 member 1 | Nie odnotowano | W 1 chorobie |
| SYT1synaptotagmin 1 | Nie odnotowano | W 1 chorobie |
| TMEM43transmembrane protein 43 | Nie odnotowano | W 1 chorobie |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Nie odnotowano | W 1 chorobie |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | 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.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni