Požymis
Slow movements
Klinikinis pavadinimas: Bradykinesia
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Santrauka
- Taip pat vadinama
- Slowness of movements
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Slow movements. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Visada | 4 ligose |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Visada | 3 ligose |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Visada | 3 ligose |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Visada | 3 ligose |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Visada | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| HTThuntingtin | Visada | 4 ligose |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MAPTmicrotubule associated protein tau | Visada | 6 ligose |
| MECP2methyl-CpG binding protein 2 | Visada | 2 ligose |
| MYORGmyogenesis regulating glycosidase | Visada | 3 ligose |
| PARK7Parkinsonism associated deglycase | Visada | 2 ligose |
| PDE8Bphosphodiesterase 8B | Visada | 2 ligose |
| PET117PET117 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Visada | 3 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 4 ligose |
| PRKNparkin RBR E3 ubiquitin protein ligase | Visada | 2 ligose |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Visada | 1 ligoje |
| SNCAsynuclein alpha | Visada | 4 ligose |
| SYNJ1synaptojanin 1 | Visada | 3 ligose |
| UQCRC1ubiquinol-cytochrome c reductase core protein 1 | Visada | 1 ligoje |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| NIT1nitrilase 1 | Labai dažnai (80–99%) | 1 ligoje |
| PODXLpodocalyxin like | Labai dažnai (80–99%) | 2 ligose |
| SLC6A3solute carrier family 6 member 3 | Labai dažnai (80–99%) | 2 ligose |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 1 ligoje |
| ATCAYATCAY kinesin light chain interacting caytaxin | Dažnai (30–79%) | 1 ligoje |
| ATXN1ataxin 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN10ataxin 10 | Dažnai (30–79%) | 1 ligoje |
| ATXN8ataxin 8 | Dažnai (30–79%) | 1 ligoje |
| ATXN8OSATXN8 opposite strand lncRNA | Dažnai (30–79%) | 2 ligose |
| CMPK2cytidine/uridine monophosphate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 3 ligose |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Dažnai (30–79%) | 1 ligoje |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 2 ligose |
| FGF13fibroblast growth factor 13 | Dažnai (30–79%) | 2 ligose |
| FTLferritin light chain | Dažnai (30–79%) | 2 ligose |
Rodyti dar 90 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 2 ligose |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 2 ligose |
| JAM2junctional adhesion molecule 2 | Dažnai (30–79%) | 3 ligose |
| KBTBD13kelch repeat and BTB domain containing 13 | Dažnai (30–79%) | 1 ligoje |
| KLHL41kelch like family member 41 | Dažnai (30–79%) | 1 ligoje |
| MYPNmyopalladin | Dažnai (30–79%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NEBnebulin | Dažnai (30–79%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 3 ligose |
| PCDH19protocadherin 19 | Dažnai (30–79%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Dažnai (30–79%) | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Dažnai (30–79%) | 2 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Dažnai (30–79%) | 1 ligoje |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Dažnai (30–79%) | 2 ligose |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 3 ligose |
| PTPAprotein phosphatase 2 phosphatase activator | Dažnai (30–79%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Dažnai (30–79%) | 2 ligose |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 2 ligose |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 2 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 2 ligose |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Dažnai (30–79%) | 2 ligose |
| SLC20A2solute carrier family 20 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC25A4solute carrier family 25 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC2A3solute carrier family 2 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Dažnai (30–79%) | 2 ligose |
| SLC39A14solute carrier family 39 member 14 | Dažnai (30–79%) | 2 ligose |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 1 ligoje |
| SPRsepiapterin reductase | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| THtyrosine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 1 ligoje |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| WDR45WD repeat domain 45 | Dažnai (30–79%) | 2 ligose |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Dažnai (30–79%) | 2 ligose |
| ATP5MKATP synthase membrane subunit k | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Kartais (5–29%) | 1 ligoje |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Kartais (5–29%) | 2 ligose |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Kartais (5–29%) | 2 ligose |
| GBA1glucosylceramidase beta 1 | Kartais (5–29%) | 2 ligose |
| GIGYF2GRB10 interacting GYF protein 2 | Kartais (5–29%) | 2 ligose |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 2 ligose |
| IMPDH2inosine monophosphate dehydrogenase 2 | Kartais (5–29%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Kartais (5–29%) | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Kartais (5–29%) | 3 ligose |
| PIDD1p53-induced death domain protein 1 | Kartais (5–29%) | 1 ligoje |
| PINK1PTEN induced kinase 1 | Kartais (5–29%) | 2 ligose |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Kartais (5–29%) | 1 ligoje |
| PRDX3peroxiredoxin 3 | Kartais (5–29%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 2 ligose |
| RRM1ribonucleotide reductase catalytic subunit M1 | Kartais (5–29%) | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| TK2thymidine kinase 2 | Kartais (5–29%) | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Kartais (5–29%) | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Kartais (5–29%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Kartais (5–29%) | 2 ligose |
| VPS13Avacuolar protein sorting 13 homolog A | Kartais (5–29%) | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Kartais (5–29%) | 1 ligoje |
| VPS35VPS35 retromer complex component | Kartais (5–29%) | 2 ligose |
| ADGRV1adhesion G protein-coupled receptor V1 | Retai (1–4 %) | 1 ligoje |
| ATL1atlastin GTPase 1 | Retai (1–4 %) | 1 ligoje |
| CPA6carboxypeptidase A6 | Retai (1–4 %) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Retai (1–4 %) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Retai (1–4 %) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Retai (1–4 %) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Retai (1–4 %) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Retai (1–4 %) | 1 ligoje |
| STX1Bsyntaxin 1B | Retai (1–4 %) | 1 ligoje |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 2 ligose |
| ATXN3ataxin 3 | Neužfiksuota | 2 ligose |
| COASYCoenzyme A synthase | Neužfiksuota | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Neužfiksuota | 1 ligoje |
| DCTN1dynactin subunit 1 | Neužfiksuota | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Neužfiksuota | 1 ligoje |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Neužfiksuota | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| JPH3junctophilin 3 | Neužfiksuota | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| PANK2pantothenate kinase 2 | Neužfiksuota | 1 ligoje |
| SNCAIPsynuclein alpha interacting protein | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 2 ligose |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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