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Tunnus
Muscle stiffness
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/muscle-stiffness.json"
page <- fromJSON(url)
page$trait$nameMuscle stiffnessHP:0003552
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Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Muscle stiffness-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma 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 →
Lugege välja geenid, mis on seotud Muscle stiffness-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test63 geeni on seotud tunnusega Muscle stiffness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Muscle stiffness. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GLRBglycine receptor beta | Alati | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Alati | Esineb 1 haiguses |
| KPNA3karyopherin subunit alpha 3 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 4 haiguses |
| ARXaristaless related homeobox | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLCN1chloride voltage-gated channel 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| DHCR2424-dehydrocholesterol reductase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLRA1glycine receptor alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPHNgephyrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC6A5solute carrier family 6 member 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Sageli (30–79%) | Esineb 1 haiguses |
| ANO5anoctamin 5 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Sageli (30–79%) | Esineb 2 haiguses |
| CAVIN1caveolae associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| MYOTmyotilin | Sageli (30–79%) | Esineb 2 haiguses |
| MYPNmyopalladin | Sageli (30–79%) | Esineb 1 haiguses |
| NEBnebulin | Sageli (30–79%) | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| REEP2receptor accessory protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SIL1SIL1 nucleotide exchange factor | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| AOPEPaminopeptidase O (putative) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYABcrystallin alpha B | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 23 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HINT1histidine triad nucleotide binding protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYO5Amyosin VA | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM1ribonucleotide reductase catalytic subunit M1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACADVLacyl-CoA dehydrogenase very long chain | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| DYSFdysferlin | Pole registreeritud | Esineb 1 haiguses |
| LDHAlactate dehydrogenase A | Pole registreeritud | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Pole registreeritud | Esineb 1 haiguses |
| TNFRSF1ATNF receptor superfamily member 1A | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Alates 449 $
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