Egenskap
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.
Sammendrag
- Også kalt
- Muscle rigidity
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test211 gener knyttet til Rigidity
Endringer i disse genene forårsaker sjeldne tilstander der Rigidity forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Alltid | I 3 tilstander |
| ATP7BATPase copper transporting beta | Alltid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Alltid | I 1 tilstand |
| DCTN1dynactin subunit 1 | Alltid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| LNPKlunapark, ER junction formation factor | Alltid | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Alltid | I 6 tilstander |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 2 tilstander |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Alltid | I 3 tilstander |
| PARK7Parkinsonism associated deglycase | Alltid | I 2 tilstander |
| PDE8Bphosphodiesterase 8B | Alltid | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Alltid | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Alltid | I 2 tilstander |
| SEMA6Bsemaphorin 6B | Alltid | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Alltid | I 1 tilstand |
| SNCAsynuclein alpha | Alltid | I 4 tilstander |
| UQCRC1ubiquinol-cytochrome c reductase core protein 1 | Alltid | I 1 tilstand |
| VPS13Cvacuolar protein sorting 13 homolog C | Alltid | I 2 tilstander |
| WDR45WD repeat domain 45 | Alltid | I 2 tilstander |
| ARXaristaless related homeobox | Svært ofte (80–99 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Svært ofte (80–99 %) | I 3 tilstander |
| GLRA1glycine receptor alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GLRBglycine receptor beta | Svært ofte (80–99 %) | I 1 tilstand |
| GPHNgephyrin | Svært ofte (80–99 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LRRK2leucine rich repeat kinase 2 | Svært ofte (80–99 %) | I 3 tilstander |
| PANK2pantothenate kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PINK1PTEN induced kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PODXLpodocalyxin like | Svært ofte (80–99 %) | I 2 tilstander |
Vis 171 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PRKNparkin RBR E3 ubiquitin protein ligase | Svært ofte (80–99 %) | I 2 tilstander |
| REEP2receptor accessory protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A3solute carrier family 6 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Svært ofte (80–99 %) | I 4 tilstander |
| TUBB4Atubulin beta 4A class IVa | Svært ofte (80–99 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Svært ofte (80–99 %) | I 2 tilstander |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstander |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| COASYCoenzyme A synthase | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 3 tilstander |
| COX11cytochrome c oxidase copper chaperone COX11 | Ofte (30–79 %) | I 1 tilstand |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Ofte (30–79 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 2 tilstander |
| GAMTguanidinoacetate N-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 2 tilstander |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 1 tilstand |
| HTThuntingtin | Ofte (30–79 %) | I 3 tilstander |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 3 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ofte (30–79 %) | I 2 tilstander |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| OGDHoxoglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Ofte (30–79 %) | I 2 tilstander |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 2 tilstander |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstander |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstander |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 2 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 2 tilstander |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 3 tilstander |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 2 tilstander |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 2 tilstander |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CPceruloplasmin | Noen ganger (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 2 tilstander |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 3 tilstander |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| GFAPglial fibrillary acidic protein | Noen ganger (5–29 %) | I 1 tilstand |
| GIGYF2GRB10 interacting GYF protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYO5Amyosin VA | Noen ganger (5–29 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 3 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCGprotein kinase C gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTPAprotein phosphatase 2 phosphatase activator | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Noen ganger (5–29 %) | I 2 tilstander |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Sjelden (1–4%) | I 1 tilstand |
| ABCA12ATP binding cassette subfamily A member 12 | Ikke registrert | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registrert | I 2 tilstander |
| ATXN3ataxin 3 | Ikke registrert | I 2 tilstander |
| CHMP2Bcharged multivesicular body protein 2B | Ikke registrert | I 1 tilstand |
| CRYABcrystallin alpha B | Ikke registrert | I 1 tilstand |
| CTSDcathepsin D | Ikke registrert | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Ikke registrert | I 1 tilstand |
| FTLferritin light chain | Ikke registrert | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registrert | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registrert | I 1 tilstand |
| JPH3junctophilin 3 | Ikke registrert | I 1 tilstand |
| LDHAlactate dehydrogenase A | Ikke registrert | I 1 tilstand |
| LOXL1lysyl oxidase like 1 | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 2 tilstander |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registrert | I 2 tilstander |
| RYR1ryanodine receptor 1 | Ikke registrert | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registrert | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker