Tunnus
Muscle twitch
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Fasciculation, Muscle fasciculation
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test91 geeni on seotud tunnusega Muscle twitch
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Muscle twitch. 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 |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| RAB7ARAB7A, member RAS oncogene family | Alati | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Alati | Esineb 4 haiguses |
| VCPvalosin containing protein | Alati | Esineb 6 haiguses |
| VRK1VRK serine/threonine kinase 1 | Alati | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLRA1glycine receptor alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLRBglycine receptor beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPHNgephyrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC6A5solute carrier family 6 member 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANGangiogenin | Sageli (30–79%) | Esineb 1 haiguses |
| ANO10anoctamin 10 | Sageli (30–79%) | Esineb 2 haiguses |
| ANXA11annexin A11 | Sageli (30–79%) | Esineb 2 haiguses |
| ATXN2ataxin 2 | Sageli (30–79%) | Esineb 3 haiguses |
| CCNFcyclin F | Sageli (30–79%) | Esineb 2 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 4 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Sageli (30–79%) | Esineb 2 haiguses |
| COQ7coenzyme Q7, hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DAOD-amino acid oxidase | Sageli (30–79%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 3 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 1 haiguses |
| GLT8D1glycosyltransferase 8 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sageli (30–79%) | Esineb 2 haiguses |
| LRP12LDL receptor related protein 12 | Sageli (30–79%) | Esineb 2 haiguses |
| MATR3matrin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Sageli (30–79%) | Esineb 1 haiguses |
| NEFHneurofilament heavy chain | Sageli (30–79%) | Esineb 2 haiguses |
| NEK1NIMA related kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NOP56NOP56 ribonucleoprotein | Sageli (30–79%) | Esineb 2 haiguses |
| OPTNoptineurin | Sageli (30–79%) | Esineb 2 haiguses |
| PFN1profilin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Sageli (30–79%) | Esineb 2 haiguses |
| PRPHperipherin | Sageli (30–79%) | Esineb 2 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 51 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SCO2synthesis of cytochrome C oxidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Sageli (30–79%) | Esineb 3 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 4 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF15TATA-box binding protein associated factor 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| TBK1TANK binding kinase 1 | Sageli (30–79%) | Esineb 3 haiguses |
| TOE1target of EGR1, exonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Sageli (30–79%) | Esineb 2 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| VPS13Dvacuolar protein sorting 13 homolog D | Sageli (30–79%) | Esineb 2 haiguses |
| VPS41VPS41 subunit of HOPS complex | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN1ataxin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATXN3ataxin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP126centrosomal protein 126 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRNgranulin precursor | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Mõnikord (5–29%) | Esineb 3 haiguses |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPB1heat shock protein family B (small) member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPTmicrotubule associated protein tau | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED11mediator complex subunit 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NEFLneurofilament light chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSEN1presenilin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Mõnikord (5–29%) | Esineb 1 haiguses |
| COQ6coenzyme Q6, monooxygenase | Harva (1–4%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Harva (1–4%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Harva (1–4%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Harva (1–4%) | Esineb 1 haiguses |
| ARandrogen receptor | Pole registreeritud | Esineb 1 haiguses |
| DMDdystrophin | Pole registreeritud | Esineb 1 haiguses |
| EEF2eukaryotic translation elongation factor 2 | Pole registreeritud | Esineb 1 haiguses |
| FBXO38F-box protein 38 | Pole registreeritud | Esineb 1 haiguses |
| GLAgalactosidase alpha | Pole registreeritud | Esineb 1 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| HINT1histidine triad nucleotide binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Pole registreeritud | Esineb 1 haiguses |
| PSAPprosaposin | Pole registreeritud | Esineb 1 haiguses |
| TFGtrafficking from ER to golgi regulator | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast