Požymis
Rigidity
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Santrauka
- Taip pat vadinama
- Muscle rigidity
- Kūno sistema
- Abnormality of the musculoskeletal 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 Rigidity. 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Visada | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Visada | 3 ligose |
| ATP7BATPase copper transporting beta | Visada | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Visada | 1 ligoje |
| DCTN1dynactin subunit 1 | Visada | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| LNPKlunapark, ER junction formation factor | Visada | 1 ligoje |
| MAPTmicrotubule associated protein tau | Visada | 6 ligose |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 2 ligose |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Visada | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Visada | 3 ligose |
| PARK7Parkinsonism associated deglycase | Visada | 2 ligose |
| PDE8Bphosphodiesterase 8B | Visada | 2 ligose |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PTCD3pentatricopeptide repeat domain 3 | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Visada | 2 ligose |
| SEMA6Bsemaphorin 6B | Visada | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Visada | 1 ligoje |
| SNCAsynuclein alpha | Visada | 4 ligose |
| UQCRC1ubiquinol-cytochrome c reductase core protein 1 | Visada | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Visada | 2 ligose |
| WDR45WD repeat domain 45 | Visada | 2 ligose |
| ARXaristaless related homeobox | Labai dažnai (80–99%) | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Labai dažnai (80–99%) | 3 ligose |
| GLRA1glycine receptor alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| GLRBglycine receptor beta | Labai dažnai (80–99%) | 1 ligoje |
| GPHNgephyrin | Labai dažnai (80–99%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Labai dažnai (80–99%) | 2 ligose |
| LRRK2leucine rich repeat kinase 2 | Labai dažnai (80–99%) | 3 ligose |
| PANK2pantothenate kinase 2 | Labai dažnai (80–99%) | 2 ligose |
| PINK1PTEN induced kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| PODXLpodocalyxin like | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 171 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PRKNparkin RBR E3 ubiquitin protein ligase | Labai dažnai (80–99%) | 2 ligose |
| REEP2receptor accessory protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| SLC6A3solute carrier family 6 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| SLC6A5solute carrier family 6 member 5 | Labai dažnai (80–99%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Labai dažnai (80–99%) | 4 ligose |
| TUBB4Atubulin beta 4A class IVa | Labai dažnai (80–99%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Labai dažnai (80–99%) | 2 ligose |
| AQP4aquaporin 4 | Dažnai (30–79%) | 1 ligoje |
| ATP6AP2ATPase H+ transporting accessory protein 2 | 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 |
| COASYCoenzyme A synthase | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 3 ligose |
| COX11cytochrome c oxidase copper chaperone COX11 | Dažnai (30–79%) | 1 ligoje |
| DDHD1DDHD domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| FRRS1Lferric chelate reductase 1 like | Dažnai (30–79%) | 1 ligoje |
| 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 |
| GAMTguanidinoacetate N-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 2 ligose |
| GPRC5BG protein-coupled receptor class C group 5 member B | Dažnai (30–79%) | 1 ligoje |
| HTThuntingtin | Dažnai (30–79%) | 3 ligose |
| IMPDH2inosine monophosphate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Dažnai (30–79%) | 3 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Dažnai (30–79%) | 2 ligose |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Dažnai (30–79%) | 2 ligose |
| OGDHoxoglutarate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| 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 |
| PLA2G6phospholipase A2 group VI | Dažnai (30–79%) | 2 ligose |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 2 ligose |
| RAB3ARAB3A, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RANBP2RAN binding protein 2 | 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%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 2 ligose |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Dažnai (30–79%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC30A10solute carrier family 30 member 10 | Dažnai (30–79%) | 2 ligose |
| SPRsepiapterin reductase | Dažnai (30–79%) | 1 ligoje |
| TBPTATA-box binding protein | Dažnai (30–79%) | 3 ligose |
| THtyrosine hydroxylase | Dažnai (30–79%) | 2 ligose |
| TMEM240transmembrane protein 240 | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Dažnai (30–79%) | 2 ligose |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 2 ligose |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 2 ligose |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 2 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Kartais (5–29%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Kartais (5–29%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Kartais (5–29%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Kartais (5–29%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Kartais (5–29%) | 1 ligoje |
| CHKAcholine kinase alpha | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Kartais (5–29%) | 1 ligoje |
| CPceruloplasmin | Kartais (5–29%) | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Kartais (5–29%) | 2 ligose |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Kartais (5–29%) | 1 ligoje |
| DDHD2DDHD domain containing 2 | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 2 ligose |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Kartais (5–29%) | 1 ligoje |
| DNM1dynamin 1 | Kartais (5–29%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Kartais (5–29%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Kartais (5–29%) | 1 ligoje |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Kartais (5–29%) | 2 ligose |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Kartais (5–29%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Kartais (5–29%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kartais (5–29%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Kartais (5–29%) | 3 ligose |
| GCDHglutaryl-CoA dehydrogenase | Kartais (5–29%) | 2 ligose |
| GFAPglial fibrillary acidic protein | Kartais (5–29%) | 1 ligoje |
| GIGYF2GRB10 interacting GYF protein 2 | Kartais (5–29%) | 2 ligose |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Kartais (5–29%) | 2 ligose |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kartais (5–29%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Kartais (5–29%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 1 ligoje |
| MMEmembrane metalloendopeptidase | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Kartais (5–29%) | 1 ligoje |
| MYO5Amyosin VA | Kartais (5–29%) | 1 ligoje |
| NAXENAD(P)HX epimerase | Kartais (5–29%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| NUP54nucleoporin 54 | Kartais (5–29%) | 1 ligoje |
| NUP62nucleoporin 62 | Kartais (5–29%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PNKDPNKD metallo-beta-lactamase domain containing | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 3 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKCGprotein kinase C gamma | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTPAprotein phosphatase 2 phosphatase activator | Kartais (5–29%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 2 ligose |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC2A3solute carrier family 2 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Kartais (5–29%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Kartais (5–29%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Kartais (5–29%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Kartais (5–29%) | 1 ligoje |
| UBTFupstream binding transcription factor | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| VPS35VPS35 retromer complex component | Kartais (5–29%) | 2 ligose |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Kartais (5–29%) | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Retai (1–4 %) | 1 ligoje |
| ATL1atlastin GTPase 1 | Retai (1–4 %) | 1 ligoje |
| ABCA12ATP binding cassette subfamily A member 12 | Neužfiksuota | 1 ligoje |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 2 ligose |
| ATXN3ataxin 3 | Neužfiksuota | 2 ligose |
| CHMP2Bcharged multivesicular body protein 2B | Neužfiksuota | 1 ligoje |
| CRYABcrystallin alpha B | Neužfiksuota | 1 ligoje |
| CTSDcathepsin D | Neužfiksuota | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Neužfiksuota | 1 ligoje |
| FTLferritin light chain | Neužfiksuota | 1 ligoje |
| GJC2gap junction protein gamma 2 | Neužfiksuota | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Neužfiksuota | 1 ligoje |
| JPH3junctophilin 3 | Neužfiksuota | 1 ligoje |
| LDHAlactate dehydrogenase A | Neužfiksuota | 1 ligoje |
| LOXL1lysyl oxidase like 1 | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Neužfiksuota | 2 ligose |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Neužfiksuota | 2 ligose |
| RYR1ryanodine receptor 1 | Neužfiksuota | 1 ligoje |
| SLC19A3solute carrier family 19 member 3 | Neužfiksuota | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Neužfiksuota | 1 ligoje |
| SNCAIPsynuclein alpha interacting protein | Neužfiksuota | 1 ligoje |
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.
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Iš kur tai žinoma
- 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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