Cecha
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.
Podsumowanie
- Znana także jako
- Muscle rigidity
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Rigidity, and the rest of your genome, with one test.
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Zamawiam Genome Test211 genów powiązanych z Rigidity
Zmiany w tych genach powodują rzadkie choroby, w których występuje Rigidity. 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Zawsze | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Zawsze | W 3 chorobach |
| ATP7BATPase copper transporting beta | Zawsze | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Zawsze | W 1 chorobie |
| DCTN1dynactin subunit 1 | Zawsze | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Zawsze | W 1 chorobie |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Zawsze | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| LNPKlunapark, ER junction formation factor | Zawsze | W 1 chorobie |
| MAPTmicrotubule associated protein tau | Zawsze | W 6 chorobach |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 2 chorobach |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Zawsze | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Zawsze | W 3 chorobach |
| PARK7Parkinsonism associated deglycase | Zawsze | W 2 chorobach |
| PDE8Bphosphodiesterase 8B | Zawsze | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 1 chorobie |
| PTCD3pentatricopeptide repeat domain 3 | Zawsze | W 1 chorobie |
| RAB32RAB32, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Zawsze | W 2 chorobach |
| SEMA6Bsemaphorin 6B | Zawsze | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Zawsze | W 1 chorobie |
| SNCAsynuclein alpha | Zawsze | W 4 chorobach |
| UQCRC1ubiquinol-cytochrome c reductase core protein 1 | Zawsze | W 1 chorobie |
| VPS13Cvacuolar protein sorting 13 homolog C | Zawsze | W 2 chorobach |
| WDR45WD repeat domain 45 | Zawsze | W 2 chorobach |
| ARXaristaless related homeobox | Bardzo często (80–99%) | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Bardzo często (80–99%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Bardzo często (80–99%) | W 3 chorobach |
| GLRA1glycine receptor alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| GLRBglycine receptor beta | Bardzo często (80–99%) | W 1 chorobie |
| GPHNgephyrin | Bardzo często (80–99%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Bardzo często (80–99%) | W 2 chorobach |
| LRRK2leucine rich repeat kinase 2 | Bardzo często (80–99%) | W 3 chorobach |
| PANK2pantothenate kinase 2 | Bardzo często (80–99%) | W 2 chorobach |
| PINK1PTEN induced kinase 1 | Bardzo często (80–99%) | W 2 chorobach |
| PODXLpodocalyxin like | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 171 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| PRKNparkin RBR E3 ubiquitin protein ligase | Bardzo często (80–99%) | W 2 chorobach |
| REEP2receptor accessory protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A3solute carrier family 6 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A5solute carrier family 6 member 5 | Bardzo często (80–99%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Bardzo często (80–99%) | W 4 chorobach |
| TUBB4Atubulin beta 4A class IVa | Bardzo często (80–99%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Bardzo często (80–99%) | W 2 chorobach |
| AQP4aquaporin 4 | Często (30–79%) | W 1 chorobie |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Często (30–79%) | W 1 chorobie |
| ATXN8ataxin 8 | Często (30–79%) | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Często (30–79%) | W 2 chorobach |
| CMPK2cytidine/uridine monophosphate kinase 2 | Często (30–79%) | W 1 chorobie |
| COASYCoenzyme A synthase | Często (30–79%) | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Często (30–79%) | W 3 chorobach |
| COX11cytochrome c oxidase copper chaperone COX11 | Często (30–79%) | W 1 chorobie |
| DDHD1DDHD domain containing 1 | Często (30–79%) | W 1 chorobie |
| FBXO7F-box protein 7 | Często (30–79%) | W 2 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 1 chorobie |
| FRRS1Lferric chelate reductase 1 like | Często (30–79%) | W 1 chorobie |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Często (30–79%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Często (30–79%) | W 2 chorobach |
| GAMTguanidinoacetate N-methyltransferase | Często (30–79%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Często (30–79%) | W 2 chorobach |
| GPRC5BG protein-coupled receptor class C group 5 member B | Często (30–79%) | W 1 chorobie |
| HTThuntingtin | Często (30–79%) | W 3 chorobach |
| IMPDH2inosine monophosphate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Często (30–79%) | W 3 chorobach |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| MYORGmyogenesis regulating glycosidase | Często (30–79%) | W 2 chorobach |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Często (30–79%) | W 2 chorobach |
| OGDHoxoglutarate dehydrogenase | Często (30–79%) | W 1 chorobie |
| PCDH19protocadherin 19 | Często (30–79%) | W 1 chorobie |
| PDGFBplatelet derived growth factor subunit B | Często (30–79%) | W 2 chorobach |
| PDGFRBplatelet derived growth factor receptor beta | Często (30–79%) | W 2 chorobach |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 2 chorobach |
| PLAAphospholipase A2 activating protein | Często (30–79%) | W 2 chorobach |
| RAB3ARAB3A, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RANBP2RAN binding protein 2 | Często (30–79%) | W 1 chorobie |
| RRP12ribosomal RNA processing 12 homolog | Często (30–79%) | W 2 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 2 chorobach |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Często (30–79%) | W 2 chorobach |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Często (30–79%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| SLC20A2solute carrier family 20 member 2 | Często (30–79%) | W 2 chorobach |
| SLC30A10solute carrier family 30 member 10 | Często (30–79%) | W 2 chorobach |
| SPRsepiapterin reductase | Często (30–79%) | W 1 chorobie |
| TBPTATA-box binding protein | Często (30–79%) | W 3 chorobach |
| THtyrosine hydroxylase | Często (30–79%) | W 2 chorobach |
| TMEM240transmembrane protein 240 | Często (30–79%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Często (30–79%) | W 1 chorobie |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Często (30–79%) | W 2 chorobach |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Czasami (5–29%) | W 2 chorobach |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 2 chorobach |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 2 chorobach |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Czasami (5–29%) | W 1 chorobie |
| CHKAcholine kinase alpha | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| CPceruloplasmin | Czasami (5–29%) | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Czasami (5–29%) | W 2 chorobach |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DDHD2DDHD domain containing 2 | 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 2 chorobach |
| 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 |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Czasami (5–29%) | W 1 chorobie |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Czasami (5–29%) | W 2 chorobach |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| 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 1 chorobie |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 3 chorobach |
| GCDHglutaryl-CoA dehydrogenase | Czasami (5–29%) | W 2 chorobach |
| GFAPglial fibrillary acidic protein | Czasami (5–29%) | W 1 chorobie |
| GIGYF2GRB10 interacting GYF protein 2 | Czasami (5–29%) | W 2 chorobach |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Czasami (5–29%) | W 2 chorobach |
| 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 |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 1 chorobie |
| MMEmembrane metalloendopeptidase | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MYO5Amyosin VA | Czasami (5–29%) | W 1 chorobie |
| NAXENAD(P)HX epimerase | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUP54nucleoporin 54 | Czasami (5–29%) | W 1 chorobie |
| NUP62nucleoporin 62 | 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 |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PNKDPNKD metallo-beta-lactamase domain containing | Czasami (5–29%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Czasami (5–29%) | W 3 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PRKCGprotein kinase C gamma | Czasami (5–29%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Czasami (5–29%) | W 1 chorobie |
| PTPAprotein phosphatase 2 phosphatase activator | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 2 chorobach |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | 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 |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC2A3solute carrier family 2 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | 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 |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| VPS35VPS35 retromer complex component | Czasami (5–29%) | W 2 chorobach |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| ATL1atlastin GTPase 1 | Rzadko (1–4%) | W 1 chorobie |
| ABCA12ATP binding cassette subfamily A member 12 | Nie odnotowano | W 1 chorobie |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Nie odnotowano | W 1 chorobie |
| ATXN2ataxin 2 | Nie odnotowano | W 2 chorobach |
| ATXN3ataxin 3 | Nie odnotowano | W 2 chorobach |
| CHMP2Bcharged multivesicular body protein 2B | Nie odnotowano | W 1 chorobie |
| CRYABcrystallin alpha B | Nie odnotowano | W 1 chorobie |
| CTSDcathepsin D | Nie odnotowano | W 1 chorobie |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Nie odnotowano | W 1 chorobie |
| FTLferritin light chain | Nie odnotowano | W 1 chorobie |
| GJC2gap junction protein gamma 2 | Nie odnotowano | W 1 chorobie |
| ITM2Bintegral membrane protein 2B | Nie odnotowano | W 1 chorobie |
| JPH3junctophilin 3 | Nie odnotowano | W 1 chorobie |
| LDHAlactate dehydrogenase A | Nie odnotowano | W 1 chorobie |
| LOXL1lysyl oxidase like 1 | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 2 chorobach |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nie odnotowano | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Nie odnotowano | W 2 chorobach |
| RYR1ryanodine receptor 1 | Nie odnotowano | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Nie odnotowano | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Nie odnotowano | W 1 chorobie |
| SNCAIPsynuclein alpha interacting 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