Požymis
Muscle twitch
Klinikinis pavadinimas: Fasciculations
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Santrauka
- Taip pat vadinama
- Fasciculation, Muscle fasciculation
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test91 genas susijęs su Muscle twitch
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Muscle twitch. 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 |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| RAB7ARAB7A, member RAS oncogene family | Visada | 1 ligoje |
| VAPBVAMP associated protein B and C | Visada | 4 ligose |
| VCPvalosin containing protein | Visada | 6 ligose |
| VRK1VRK serine/threonine kinase 1 | Visada | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GLRA1glycine receptor alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| GLRBglycine receptor beta | Labai dažnai (80–99%) | 1 ligoje |
| GPHNgephyrin | Labai dažnai (80–99%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Labai dažnai (80–99%) | 2 ligose |
| SLC6A5solute carrier family 6 member 5 | Labai dažnai (80–99%) | 1 ligoje |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANO10anoctamin 10 | Dažnai (30–79%) | 2 ligose |
| ANXA11annexin A11 | Dažnai (30–79%) | 2 ligose |
| ATXN2ataxin 2 | Dažnai (30–79%) | 3 ligose |
| CCNFcyclin F | Dažnai (30–79%) | 2 ligose |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 4 ligose |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 2 ligose |
| COQ7coenzyme Q7, hydroxylase | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 2 ligose |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 3 ligose |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 2 ligose |
| LRP12LDL receptor related protein 12 | Dažnai (30–79%) | 2 ligose |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Dažnai (30–79%) | 1 ligoje |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 2 ligose |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NOP56NOP56 ribonucleoprotein | Dažnai (30–79%) | 2 ligose |
| OPTNoptineurin | Dažnai (30–79%) | 2 ligose |
| PFN1profilin 1 | Dažnai (30–79%) | 2 ligose |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Dažnai (30–79%) | 2 ligose |
| PRPHperipherin | Dažnai (30–79%) | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 51 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 3 ligose |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Dažnai (30–79%) | 1 ligoje |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 4 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 2 ligose |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 3 ligose |
| TOE1target of EGR1, exonuclease | Dažnai (30–79%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 2 ligose |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VPS13Dvacuolar protein sorting 13 homolog D | Dažnai (30–79%) | 2 ligose |
| VPS41VPS41 subunit of HOPS complex | Dažnai (30–79%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 2 ligose |
| ATXN3ataxin 3 | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| CEP126centrosomal protein 126 | Kartais (5–29%) | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Kartais (5–29%) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Kartais (5–29%) | 1 ligoje |
| GRNgranulin precursor | Kartais (5–29%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Kartais (5–29%) | 3 ligose |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Kartais (5–29%) | 1 ligoje |
| HSPB1heat shock protein family B (small) member 1 | Kartais (5–29%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| MAPTmicrotubule associated protein tau | Kartais (5–29%) | 1 ligoje |
| MED11mediator complex subunit 11 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 2 ligose |
| NEFLneurofilament light chain | Kartais (5–29%) | 1 ligoje |
| PSEN1presenilin 1 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SCYL2SCY1 like pseudokinase 2 | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| COQ6coenzyme Q6, monooxygenase | Retai (1–4 %) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Retai (1–4 %) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Retai (1–4 %) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Retai (1–4 %) | 1 ligoje |
| ARandrogen receptor | Neužfiksuota | 1 ligoje |
| DMDdystrophin | Neužfiksuota | 1 ligoje |
| EEF2eukaryotic translation elongation factor 2 | Neužfiksuota | 1 ligoje |
| FBXO38F-box protein 38 | Neužfiksuota | 1 ligoje |
| GLAgalactosidase alpha | Neužfiksuota | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| PSAPprosaposin | Neužfiksuota | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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