AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Muscle spasm
Sudden and involuntary contractions of one or more muscles.
Santrauka
- Taip pat vadinama
- Muscle cramps, Muscle spasms
- Kūno sistema
- Abnormality of the musculoskeletal system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/muscle-spasm.json"
page <- fromJSON(url)
page$trait$nameMuscle spasmHP:0003394
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Muscle spasm, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test173 genų susiję su Muscle spasm
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Muscle spasm. 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 |
|---|---|---|
| ARHGAP19Rho GTPase activating protein 19 | Visada | 1 ligoje |
| CASRcalcium sensing receptor | Visada | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Visada | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Visada | 2 ligose |
| FDX2ferredoxin 2 | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| LRP12LDL receptor related protein 12 | Visada | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 4 ligose |
| AMPD1adenosine monophosphate deaminase 1 | Labai dažnai (80–99%) | 1 ligoje |
| AMPD3adenosine monophosphate deaminase 3 | Labai dažnai (80–99%) | 1 ligoje |
| CASQ1calsequestrin 1 | Labai dažnai (80–99%) | 2 ligose |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Labai dažnai (80–99%) | 2 ligose |
| VAPBVAMP associated protein B and C | Labai dažnai (80–99%) | 4 ligose |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Dažnai (30–79%) | 1 ligoje |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 1 ligoje |
| ATXN1ataxin 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 2 ligose |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Dažnai (30–79%) | 2 ligose |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Dažnai (30–79%) | 1 ligoje |
| CCNFcyclin F | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL5A2collagen type V alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 2 ligose |
| DMDdystrophin | Dažnai (30–79%) | 2 ligose |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 2 ligose |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 3 ligose |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| FXNfrataxin | Dažnai (30–79%) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 133 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 2 ligose |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Dažnai (30–79%) | 1 ligoje |
| HHAThedgehog acyltransferase | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Dažnai (30–79%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Dažnai (30–79%) | 1 ligoje |
| KYkyphoscoliosis peptidase | Dažnai (30–79%) | 1 ligoje |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MFN2mitofusin 2 | Dažnai (30–79%) | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 2 ligose |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 1 ligoje |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PGK1phosphoglycerate kinase 1 | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| PRPHperipherin | Dažnai (30–79%) | 2 ligose |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| RTN2reticulon 2 | Dažnai (30–79%) | 1 ligoje |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Dažnai (30–79%) | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Dažnai (30–79%) | 1 ligoje |
| SMN2survival of motor neuron 2, centromeric | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 2 ligose |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Dažnai (30–79%) | 1 ligoje |
| SVILsupervillin | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 2 ligose |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VCPvalosin containing protein | Dažnai (30–79%) | 3 ligose |
| WASHC5WASH complex subunit 5 | Dažnai (30–79%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ATXN3ataxin 3 | Kartais (5–29%) | 4 ligose |
| BAG3BAG cochaperone 3 | Kartais (5–29%) | 1 ligoje |
| CADM3cell adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| CLCN1chloride voltage-gated channel 1 | Kartais (5–29%) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Kartais (5–29%) | 1 ligoje |
| CMPK2cytidine/uridine monophosphate kinase 2 | Kartais (5–29%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Kartais (5–29%) | 2 ligose |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Kartais (5–29%) | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Kartais (5–29%) | 1 ligoje |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Kartais (5–29%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Kartais (5–29%) | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Kartais (5–29%) | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Kartais (5–29%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kartais (5–29%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Kartais (5–29%) | 3 ligose |
| GIGYF2GRB10 interacting GYF protein 2 | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 2 ligose |
| GNASGNAS complex locus | Kartais (5–29%) | 3 ligose |
| HEXBhexosaminidase subunit beta | Kartais (5–29%) | 1 ligoje |
| HSPB1heat shock protein family B (small) member 1 | Kartais (5–29%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Kartais (5–29%) | 1 ligoje |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Kartais (5–29%) | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LPIN1lipin 1 | Kartais (5–29%) | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Kartais (5–29%) | 2 ligose |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 2 ligose |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Kartais (5–29%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEFLneurofilament light chain | Kartais (5–29%) | 1 ligoje |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Kartais (5–29%) | 1 ligoje |
| PARK7Parkinsonism associated deglycase | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PHKBphosphorylase kinase regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PINK1PTEN induced kinase 1 | Kartais (5–29%) | 1 ligoje |
| PMP22peripheral myelin protein 22 | Kartais (5–29%) | 1 ligoje |
| PODXLpodocalyxin like | Kartais (5–29%) | 1 ligoje |
| PRKNparkin RBR E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Kartais (5–29%) | 1 ligoje |
| SLC12A3solute carrier family 12 member 3 | Kartais (5–29%) | 2 ligose |
| SLC20A2solute carrier family 20 member 2 | Kartais (5–29%) | 1 ligoje |
| SNCAsynuclein alpha | Kartais (5–29%) | 2 ligose |
| STX16syntaxin 16 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Kartais (5–29%) | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Kartais (5–29%) | 1 ligoje |
| VPS35VPS35 retromer complex component | Kartais (5–29%) | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Kartais (5–29%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Retai (1–4 %) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Retai (1–4 %) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Retai (1–4 %) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Retai (1–4 %) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Retai (1–4 %) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Retai (1–4 %) | 1 ligoje |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Neužfiksuota | 1 ligoje |
| ARandrogen receptor | Neužfiksuota | 1 ligoje |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Neužfiksuota | 1 ligoje |
| CAV3caveolin 3 | Neužfiksuota | 1 ligoje |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Neužfiksuota | 1 ligoje |
| DOK7docking protein 7 | Neužfiksuota | 1 ligoje |
| FBXO38F-box protein 38 | Neužfiksuota | 1 ligoje |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Neužfiksuota | 1 ligoje |
| GLAgalactosidase alpha | Neužfiksuota | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Neužfiksuota | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| LDHAlactate dehydrogenase A | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| SLC12A1solute carrier family 12 member 1 | Neužfiksuota | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | Neužfiksuota | 1 ligoje |
| TRPM6transient receptor potential cation channel subfamily M member 6 | Neužfiksuota | 1 ligoje |
| TRPM7transient receptor potential cation channel subfamily M member 7 | 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.
Siauresni požymiai
Platesni požymiai
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 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites