Požymis
Clonus
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Santrauka
- Taip pat vadinama
- Involuntary rhythmic muscular contractions and relaxations
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Clonus. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 1 ligoje |
| CAMLGcalcium modulating ligand | Visada | 1 ligoje |
| CCT5chaperonin containing TCP1 subunit 5 | Visada | 2 ligose |
| DNM1dynamin 1 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| MED17mediator complex subunit 17 | Visada | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Visada | 1 ligoje |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MYL2myosin light chain 2 | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SLC25A21solute carrier family 25 member 21 | Visada | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Visada | 2 ligose |
| TSEN2tRNA splicing endonuclease subunit 2 | Visada | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Visada | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Labai dažnai (80–99%) | 2 ligose |
| VPS37AVPS37A subunit of ESCRT-I | Labai dažnai (80–99%) | 2 ligose |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Dažnai (30–79%) | 2 ligose |
| AMPD2adenosine monophosphate deaminase 2 | Dažnai (30–79%) | 2 ligose |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Dažnai (30–79%) | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Dažnai (30–79%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Dažnai (30–79%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Dažnai (30–79%) | 1 ligoje |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Dažnai (30–79%) | 2 ligose |
| RTN2reticulon 2 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 58 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Dažnai (30–79%) | 2 ligose |
| SLC33A1solute carrier family 33 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC44A1solute carrier family 44 member 1 | Dažnai (30–79%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 2 ligose |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FUSFUS RNA binding protein | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Kartais (5–29%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 1 ligoje |
| HTThuntingtin | Kartais (5–29%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Kartais (5–29%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Kartais (5–29%) | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| PCpyruvate carboxylase | Kartais (5–29%) | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| POMKprotein O-mannose kinase | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Kartais (5–29%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SETXsenataxin | Kartais (5–29%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Kartais (5–29%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Kartais (5–29%) | 1 ligoje |
| SLC2A3solute carrier family 2 member 3 | Kartais (5–29%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kartais (5–29%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Kartais (5–29%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| CAV1caveolin 1 | Neužfiksuota | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Neužfiksuota | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Neužfiksuota | 1 ligoje |
| NIPA1NIPA magnesium transporter 1 | Neužfiksuota | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Neužfiksuota | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Neužfiksuota | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Neužfiksuota | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | 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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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 2026.10.16-c6eea6bf.
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