Požymis
Brisk reflexes
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Santrauka
- Taip pat vadinama
- Brisk deep tendon reflexes
- 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 Test135 genų susiję su Brisk reflexes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Brisk reflexes. 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 |
|---|---|---|
| ATG5autophagy related 5 | Visada | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Visada | 2 ligose |
| BCAT2branched chain amino acid transaminase 2 | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 2 ligose |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| DARS1aspartyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Visada | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Visada | 1 ligoje |
| GDAP2ganglioside induced differentiation associated protein 2 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Visada | 1 ligoje |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| MALmal, T cell differentiation protein (MAL blood group) | Visada | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MMAAmetabolism of cobalamin associated A | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| MRPS25mitochondrial ribosomal protein S25 | Visada | 1 ligoje |
| MSTNmyostatin | Visada | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Visada | 2 ligose |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Visada | 2 ligose |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Visada | 1 ligoje |
| PDE8Bphosphodiesterase 8B | Visada | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Visada | 1 ligoje |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| RNF170ring finger protein 170 | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Visada | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Visada | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Visada | 1 ligoje |
Rodyti dar 95 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TANGO2transport and golgi organization 2 homolog | Visada | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Visada | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| CDC40cell division cycle 40 | Labai dažnai (80–99%) | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Labai dažnai (80–99%) | 1 ligoje |
| PPIL1peptidylprolyl isomerase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| REEP1receptor accessory protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Labai dažnai (80–99%) | 1 ligoje |
| ABCB7ATP binding cassette subfamily B member 7 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 2 ligose |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Dažnai (30–79%) | 1 ligoje |
| ANO10anoctamin 10 | Dažnai (30–79%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Dažnai (30–79%) | 1 ligoje |
| COQ5coenzyme Q5, methyltransferase | Dažnai (30–79%) | 1 ligoje |
| COQ8Acoenzyme Q8A | Dažnai (30–79%) | 1 ligoje |
| COX11cytochrome c oxidase copper chaperone COX11 | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Dažnai (30–79%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Dažnai (30–79%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Dažnai (30–79%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| GEMIN5gem nuclear organelle associated protein 5 | Dažnai (30–79%) | 1 ligoje |
| GLYCTKglycerate kinase | Dažnai (30–79%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Dažnai (30–79%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| IMPDH2inosine monophosphate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 1 ligoje |
| PARK7Parkinsonism associated deglycase | Dažnai (30–79%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 1 ligoje |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Dažnai (30–79%) | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| REPS1RALBP1 associated Eps domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Dažnai (30–79%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| SPASTspastin | Dažnai (30–79%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| THtyrosine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Dažnai (30–79%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP2tubulin gamma complex component 2 | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| VCPvalosin containing protein | Dažnai (30–79%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| CADM3cell adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Kartais (5–29%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| FTLferritin light chain | Kartais (5–29%) | 1 ligoje |
| GRM1glutamate metabotropic receptor 1 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| PITRM1pitrilysin metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SETSET nuclear proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Kartais (5–29%) | 1 ligoje |
| SLC52A3solute carrier family 52 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC6A5solute carrier family 6 member 5 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| WDR62WD repeat domain 62 | Kartais (5–29%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Retai (1–4 %) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ADSLadenylosuccinate lyase | Neužfiksuota | 1 ligoje |
| COX5Acytochrome c oxidase subunit 5A | Neužfiksuota | 1 ligoje |
| COXFA4cytochrome c oxidase associated subunit FA4 | Neužfiksuota | 1 ligoje |
| GLE1GLE1 RNA export mediator | Neužfiksuota | 1 ligoje |
| IER3IP1immediate early response 3 interacting protein 1 | 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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