Egenskap
Muscle twitch
Kliniskt namn: 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.
Sammanfattning
- Även kallad
- Fasciculation, Muscle fasciculation
- Kroppssystem
- Abnormality of the nervous system
Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/fasciculations.json"
page <- fromJSON(url)
page$trait$nameLäs generna kopplade till Muscle twitch, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test45 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.
- Amyotrophic Lateral Sclerosis (ALS)Reads 21 of these genesVAPBVCPANGANXA11CCNFCHCHD10About this report →
- Frontotemporal DementiaReads 11 of these genesVCPCCNFCHCHD10CHMP2BHNRNPA1SQSTM1About this report →
- Charcot-Marie-Tooth DiseaseReads 17 of these genesRAB7AVCPVRK1COQ7DCTN1FIG4About this report →
- NeurofibromatosisReads 3 of these genesLZTR1NF2SMARCB1About this report →
Show 41 more reports
- Distal MyopathiesReads 5 of these genesVCPHNRNPA1LRP12MATR3HNRNPA2B1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 6 of these genesATXN2NOP56ATXN1ATXN3ELOVL4EEF2About this report →
- Androgen Insensitivity SyndromeReads 1 of these genesARAbout this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)Reads 1 of these genesARAbout this report →
- Spinal Muscular AtrophyReads 5 of these genesVRK1CHCHD10DCTN1BICD2FBXO38About this report →
- Alzheimer diseaseReads 2 of these genesTREM2PSEN1About this report →
- Alagille SyndromeReads 1 of these genesJAG1About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- Lysosomal Storage DiseaseReads 5 of these genesPNPLA2GRNHEXBGLAPSAPAbout this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesKIF1CSPG11UCHL1HACE1TFGAbout this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 1 of these genesSMARCB1About this report →
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesANO10SYNE1VPS13DVPS41About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesTREM2About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesGPHNAbout this report →
- Other Inherited LeukodystrophiesReads 4 of these genesDARS2TREM2TMEM106BPSAPAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesCOL25A1About this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesCOQ7MPV17SCO2COQ6About this report →
- Dilated CardiomyopathyReads 2 of these genesSYNE1DMDAbout this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesGRNAbout this report →
- Parkinson DiseaseReads 1 of these genesMAPTAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesARAbout this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Noonan SyndromeReads 1 of these genesLZTR1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesTMEM106BAbout this report →
- Intellectual DisabilityReads 3 of these genesVRK1ERBB4SMARCB1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSCN4AAbout this report →
- Nephrotic SyndromeReads 1 of these genesCOQ6About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesCPLANE1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesLZTR1About this report →
- Leigh SyndromeReads 1 of these genesSCO2About this report →
- Epilepsy (Full Panel)Reads 1 of these genesHACE1About this report →
Läs generna kopplade till Muscle twitch, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test91 gener kopplade till Muscle twitch
Förändringar i dessa gener orsakar sällsynta tillstånd där Muscle twitch förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| RAB7ARAB7A, member RAS oncogene family | Alltid | I 1 tillstånd |
| VAPBVAMP associated protein B and C | Alltid | I 4 tillstånd |
| VCPvalosin containing protein | Alltid | I 6 tillstånd |
| VRK1VRK serine/threonine kinase 1 | Alltid | I 1 tillstånd |
| ATAD1ATPase family AAA domain containing 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GLRA1glycine receptor alpha 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GLRBglycine receptor beta | Mycket ofta (80–99 %) | I 1 tillstånd |
| GPHNgephyrin | Mycket ofta (80–99 %) | I 1 tillstånd |
| KIF1Ckinesin family member 1C | Mycket ofta (80–99 %) | I 2 tillstånd |
| SLC6A5solute carrier family 6 member 5 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ANGangiogenin | Ofta (30–79 %) | I 1 tillstånd |
| ANO10anoctamin 10 | Ofta (30–79 %) | I 2 tillstånd |
| ANXA11annexin A11 | Ofta (30–79 %) | I 2 tillstånd |
| ATXN2ataxin 2 | Ofta (30–79 %) | I 3 tillstånd |
| CCNFcyclin F | Ofta (30–79 %) | I 2 tillstånd |
| CFAP410cilia and flagella associated protein 410 | Ofta (30–79 %) | I 1 tillstånd |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofta (30–79 %) | I 4 tillstånd |
| CHMP2Bcharged multivesicular body protein 2B | Ofta (30–79 %) | I 2 tillstånd |
| COQ7coenzyme Q7, hydroxylase | Ofta (30–79 %) | I 1 tillstånd |
| DAOD-amino acid oxidase | Ofta (30–79 %) | I 1 tillstånd |
| DCTN1dynactin subunit 1 | Ofta (30–79 %) | I 2 tillstånd |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofta (30–79 %) | I 1 tillstånd |
| EXOSC9exosome component 9 | Ofta (30–79 %) | I 1 tillstånd |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofta (30–79 %) | I 1 tillstånd |
| FUSFUS RNA binding protein | Ofta (30–79 %) | I 3 tillstånd |
| GLE1GLE1 RNA export mediator | Ofta (30–79 %) | I 1 tillstånd |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofta (30–79 %) | I 2 tillstånd |
| LRP12LDL receptor related protein 12 | Ofta (30–79 %) | I 2 tillstånd |
| MATR3matrin 3 | Ofta (30–79 %) | I 1 tillstånd |
| MPV17mitochondrial inner membrane protein MPV17 | Ofta (30–79 %) | I 1 tillstånd |
| NEFHneurofilament heavy chain | Ofta (30–79 %) | I 2 tillstånd |
| NEK1NIMA related kinase 1 | Ofta (30–79 %) | I 1 tillstånd |
| NOP56NOP56 ribonucleoprotein | Ofta (30–79 %) | I 2 tillstånd |
| OPTNoptineurin | Ofta (30–79 %) | I 2 tillstånd |
| PFN1profilin 1 | Ofta (30–79 %) | I 2 tillstånd |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofta (30–79 %) | I 2 tillstånd |
| PRPHperipherin | Ofta (30–79 %) | I 2 tillstånd |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofta (30–79 %) | I 1 tillstånd |
Visa 51 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| SCO2synthesis of cytochrome C oxidase 2 | Ofta (30–79 %) | I 1 tillstånd |
| SOD1superoxide dismutase 1 | Ofta (30–79 %) | I 3 tillstånd |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofta (30–79 %) | I 1 tillstånd |
| SQSTM1sequestosome 1 | Ofta (30–79 %) | I 4 tillstånd |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| TAF15TATA-box binding protein associated factor 15 | Ofta (30–79 %) | I 1 tillstånd |
| TARDBPTAR DNA binding protein | Ofta (30–79 %) | I 2 tillstånd |
| TBK1TANK binding kinase 1 | Ofta (30–79 %) | I 3 tillstånd |
| TOE1target of EGR1, exonuclease | Ofta (30–79 %) | I 1 tillstånd |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofta (30–79 %) | I 2 tillstånd |
| UBQLN2ubiquilin 2 | Ofta (30–79 %) | I 1 tillstånd |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofta (30–79 %) | I 1 tillstånd |
| UNC13Aunc-13 homolog A | Ofta (30–79 %) | I 1 tillstånd |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofta (30–79 %) | I 2 tillstånd |
| VPS41VPS41 subunit of HOPS complex | Ofta (30–79 %) | I 1 tillstånd |
| ATXN1ataxin 1 | Ibland (5–29 %) | I 2 tillstånd |
| ATXN3ataxin 3 | Ibland (5–29 %) | I 1 tillstånd |
| BICD2BICD cargo adaptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| CEP126centrosomal protein 126 | Ibland (5–29 %) | I 1 tillstånd |
| COL25A1collagen type XXV alpha 1 chain | Ibland (5–29 %) | I 1 tillstånd |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| ELOVL4ELOVL fatty acid elongase 4 | Ibland (5–29 %) | I 1 tillstånd |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Ibland (5–29 %) | I 1 tillstånd |
| GRNgranulin precursor | Ibland (5–29 %) | I 1 tillstånd |
| HEXBhexosaminidase subunit beta | Ibland (5–29 %) | I 3 tillstånd |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Ibland (5–29 %) | I 1 tillstånd |
| HSPB1heat shock protein family B (small) member 1 | Ibland (5–29 %) | I 1 tillstånd |
| JAG1jagged canonical Notch ligand 1 | Ibland (5–29 %) | I 1 tillstånd |
| MAPTmicrotubule associated protein tau | Ibland (5–29 %) | I 1 tillstånd |
| MED11mediator complex subunit 11 | Ibland (5–29 %) | I 1 tillstånd |
| MORC2MORC family CW-type zinc finger 2 | Ibland (5–29 %) | I 2 tillstånd |
| NEFLneurofilament light chain | Ibland (5–29 %) | I 1 tillstånd |
| PSEN1presenilin 1 | Ibland (5–29 %) | I 1 tillstånd |
| RYR1ryanodine receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCYL2SCY1 like pseudokinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| TBCDtubulin folding cofactor D | Ibland (5–29 %) | I 1 tillstånd |
| TMEM106Btransmembrane protein 106B | Ibland (5–29 %) | I 1 tillstånd |
| COQ6coenzyme Q6, monooxygenase | Sällan (1–4%) | I 1 tillstånd |
| LZTR1leucine zipper like post translational regulator 1 | Sällan (1–4%) | I 1 tillstånd |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sällan (1–4%) | I 1 tillstånd |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sällan (1–4%) | I 1 tillstånd |
| ARandrogen receptor | Inte registrerat | I 1 tillstånd |
| DMDdystrophin | Inte registrerat | I 1 tillstånd |
| EEF2eukaryotic translation elongation factor 2 | Inte registrerat | I 1 tillstånd |
| FBXO38F-box protein 38 | Inte registrerat | I 1 tillstånd |
| GLAgalactosidase alpha | Inte registrerat | I 1 tillstånd |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Inte registrerat | I 1 tillstånd |
| HINT1histidine triad nucleotide binding protein 1 | Inte registrerat | I 1 tillstånd |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Inte registrerat | I 1 tillstånd |
| PSAPprosaposin | Inte registrerat | I 1 tillstånd |
| TFGtrafficking from ER to golgi regulator | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
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Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.17-8666dff2.
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Fri frakt · Resultat inom 6–8 veckor
