Piirre
Muscle stiffness
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the musculoskeletal system
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/muscle-stiffness.json"
page <- fromJSON(url)
page$trait$nameLue Muscle stiffness-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test57 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Congenital MyopathiesReads 8 of these genesACTA1KBTBD13KLHL41MYPNNEBRYR1About this report →
- Malignant Hyperthermia SusceptibilityReads 2 of these genesCACNA1SRYR1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
Show 53 more reports
- Familial Periodic ParalysisReads 2 of these genesSCN4ACACNA1SAbout this report →
- Other Inherited LeukodystrophiesReads 10 of these genesADARGALCIFIH1PSAPRNASEH2ARNASEH2BAbout this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Hyperekplexia 3 (SLC6A5)Reads 1 of these genesSLC6A5About this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyReads 1 of these genesACADVLAbout this report →
- Distal MyopathiesReads 4 of these genesANO5MYOTCRYABDYSFAbout this report →
- Myofibrillar MyopathiesReads 3 of these genesMYOTRYR1CRYABAbout this report →
- Inherited Neurodegenerative DisordersReads 16 of these genesKPNA3PANK2REEP2SIL1SPG7ADARAbout this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Myotonic DystrophyReads 1 of these genesCNBPAbout this report →
- Tubular Aggregate MyopathyReads 1 of these genesSTIM1About this report →
- Other Inborn Errors of ImmunityReads 10 of these genesKRASADARIFIH1RNASEH2ARNASEH2BRNASEH2CAbout this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Griscelli SyndromeReads 1 of these genesMYO5AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesANO5MYOTDYSFAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesSCN4ACLCN1SLC2A1About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 2 of these genesACADVLCPT2About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesKCNA1About this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesGPHNAbout this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Autoimmune DiseaseReads 2 of these genesKRASTREX1About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1KAT6AAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesTNFRSF1AAbout this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesKRASMYPNACADVLAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesKPNA3REEP2SPG7About this report →
- Osteogenesis ImperfectaReads 2 of these genesANO5IFIH1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesPANK2About this report →
- Epilepsy (Full Panel)Reads 4 of these genesARXGABRA3KCNA1SLC2A1About this report →
- LipodystrophyReads 1 of these genesCAVIN1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesGALCHINT1POLGPSAPAbout this report →
- Lysosomal Storage DiseaseReads 2 of these genesGALCPSAPAbout this report →
- Glycogen Storage DiseaseReads 1 of these genesLDHAAbout this report →
- Primary Mitochondrial DiseaseReads 3 of these genesPOLGTK2TOP3AAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Noonan SyndromeReads 1 of these genesKRASAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesCRYABAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesARXAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSCN4AAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesSTIM1About this report →
- Dilated CardiomyopathyReads 1 of these genesMYPNAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGFR1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSIL1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesHINT1About this report →
- Intellectual DisabilityReads 1 of these genesKAT6AAbout this report →
Lue Muscle stiffness-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test63 geeniä, jotka liittyvät piirteeseen Muscle stiffness
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Muscle stiffness esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GLRBglycine receptor beta | Aina | 2 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Aina | 1 sairaudessa |
| KPNA3karyopherin subunit alpha 3 | Aina | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Aina | 4 sairaudessa |
| ARXaristaless related homeobox | Hyvin usein (80–99%) | 1 sairaudessa |
| ATAD1ATPase family AAA domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLCN1chloride voltage-gated channel 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| DHCR2424-dehydrocholesterol reductase | Hyvin usein (80–99%) | 1 sairaudessa |
| GLRA1glycine receptor alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GPHNgephyrin | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC6A5solute carrier family 6 member 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Usein (30–79%) | 1 sairaudessa |
| ANO5anoctamin 5 | Usein (30–79%) | 1 sairaudessa |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Usein (30–79%) | 2 sairaudessa |
| CAVIN1caveolae associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Usein (30–79%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Usein (30–79%) | 1 sairaudessa |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Usein (30–79%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Usein (30–79%) | 1 sairaudessa |
| KBTBD13kelch repeat and BTB domain containing 13 | Usein (30–79%) | 2 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Usein (30–79%) | 1 sairaudessa |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Usein (30–79%) | 1 sairaudessa |
| KLHL41kelch like family member 41 | Usein (30–79%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Usein (30–79%) | 1 sairaudessa |
| MYOTmyotilin | Usein (30–79%) | 2 sairaudessa |
| MYPNmyopalladin | Usein (30–79%) | 1 sairaudessa |
| NEBnebulin | Usein (30–79%) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Usein (30–79%) | 1 sairaudessa |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Usein (30–79%) | 1 sairaudessa |
| REEP2receptor accessory protein 2 | Usein (30–79%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Usein (30–79%) | 2 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Usein (30–79%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Usein (30–79%) | 1 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Usein (30–79%) | 1 sairaudessa |
| TPM2tropomyosin 2 | Usein (30–79%) | 1 sairaudessa |
| TPM3tropomyosin 3 | Usein (30–79%) | 1 sairaudessa |
| ADARadenosine deaminase RNA specific | Joskus (5–29%) | 1 sairaudessa |
| AOPEPaminopeptidase O (putative) | Joskus (5–29%) | 1 sairaudessa |
| CRYABcrystallin alpha B | Joskus (5–29%) | 1 sairaudessa |
Näytä 23 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GALCgalactosylceramidase | Joskus (5–29%) | 1 sairaudessa |
| HINT1histidine triad nucleotide binding protein 1 | Joskus (5–29%) | 2 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Joskus (5–29%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 1 sairaudessa |
| LSM11LSM11, U7 small nuclear RNA associated | Joskus (5–29%) | 1 sairaudessa |
| MYO5Amyosin VA | Joskus (5–29%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| RNASEH2Aribonuclease H2 subunit A | Joskus (5–29%) | 1 sairaudessa |
| RNASEH2Bribonuclease H2 subunit B | Joskus (5–29%) | 1 sairaudessa |
| RNASEH2Cribonuclease H2 subunit C | Joskus (5–29%) | 1 sairaudessa |
| RNU7-1RNA, U7 small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| RRM1ribonucleotide reductase catalytic subunit M1 | Joskus (5–29%) | 1 sairaudessa |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Joskus (5–29%) | 1 sairaudessa |
| TK2thymidine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| TOP3ADNA topoisomerase III alpha | Joskus (5–29%) | 1 sairaudessa |
| TREX1three prime repair exonuclease 1 | Joskus (5–29%) | 1 sairaudessa |
| ACADVLacyl-CoA dehydrogenase very long chain | Ei kirjattu | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| DYSFdysferlin | Ei kirjattu | 1 sairaudessa |
| LDHAlactate dehydrogenase A | Ei kirjattu | 1 sairaudessa |
| STIM1stromal interaction molecule 1 | Ei kirjattu | 1 sairaudessa |
| TNFRSF1ATNF receptor superfamily member 1A | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.19-9814e911.
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Ilmainen toimitus · Tulokset 6–8 viikossa
