Piirre
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.
Yhteenveto
- Tunnetaan myös nimellä
- Brisk deep tendon reflexes
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test135 geeniä, jotka liittyvät piirteeseen Brisk reflexes
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Brisk reflexes esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ATG5autophagy related 5 | Aina | 1 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Aina | 2 sairaudessa |
| BCAT2branched chain amino acid transaminase 2 | Aina | 1 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Aina | 1 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Aina | 2 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 1 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Aina | 1 sairaudessa |
| DARS1aspartyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Aina | 1 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Aina | 1 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Aina | 1 sairaudessa |
| GDAP2ganglioside induced differentiation associated protein 2 | Aina | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Aina | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Aina | 1 sairaudessa |
| MALmal, T cell differentiation protein (MAL blood group) | Aina | 1 sairaudessa |
| MARK2microtubule affinity regulating kinase 2 | Aina | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Aina | 1 sairaudessa |
| MMAAmetabolism of cobalamin associated A | Aina | 1 sairaudessa |
| MMADHCmetabolism of cobalamin associated D | Aina | 1 sairaudessa |
| MRPS25mitochondrial ribosomal protein S25 | Aina | 1 sairaudessa |
| MSTNmyostatin | Aina | 1 sairaudessa |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Aina | 2 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Aina | 2 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Aina | 1 sairaudessa |
| NOTCH3notch receptor 3 | Aina | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Aina | 1 sairaudessa |
| PAK3p21 (RAC1) activated kinase 3 | Aina | 1 sairaudessa |
| PDE8Bphosphodiesterase 8B | Aina | 1 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Aina | 1 sairaudessa |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Aina | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| RNF170ring finger protein 170 | Aina | 1 sairaudessa |
| RTN2reticulon 2 | Aina | 1 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SMG9SMG9 nonsense mediated mRNA decay factor | Aina | 1 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Aina | 1 sairaudessa |
| TACO1translational activator of cytochrome c oxidase I | Aina | 1 sairaudessa |
Näytä 95 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| TANGO2transport and golgi organization 2 homolog | Aina | 1 sairaudessa |
| VRK1VRK serine/threonine kinase 1 | Aina | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Aina | 1 sairaudessa |
| CDC40cell division cycle 40 | Hyvin usein (80–99%) | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Hyvin usein (80–99%) | 1 sairaudessa |
| PPIL1peptidylprolyl isomerase like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| REEP1receptor accessory protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Hyvin usein (80–99%) | 1 sairaudessa |
| ABCB7ATP binding cassette subfamily B member 7 | Usein (30–79%) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Usein (30–79%) | 2 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 1 sairaudessa |
| ANO10anoctamin 10 | Usein (30–79%) | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Usein (30–79%) | 1 sairaudessa |
| COQ5coenzyme Q5, methyltransferase | Usein (30–79%) | 1 sairaudessa |
| COQ8Acoenzyme Q8A | Usein (30–79%) | 1 sairaudessa |
| COX11cytochrome c oxidase copper chaperone COX11 | Usein (30–79%) | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| ELOVL1ELOVL fatty acid elongase 1 | Usein (30–79%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Usein (30–79%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Usein (30–79%) | 1 sairaudessa |
| EXOSC9exosome component 9 | Usein (30–79%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| GBA2glucosylceramidase beta 2 | Usein (30–79%) | 1 sairaudessa |
| GCH1GTP cyclohydrolase 1 | Usein (30–79%) | 1 sairaudessa |
| GEMIN5gem nuclear organelle associated protein 5 | Usein (30–79%) | 1 sairaudessa |
| GLYCTKglycerate kinase | Usein (30–79%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Usein (30–79%) | 1 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| IMPDH2inosine monophosphate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| JAM2junctional adhesion molecule 2 | Usein (30–79%) | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Usein (30–79%) | 1 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 1 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Usein (30–79%) | 1 sairaudessa |
| PARK7Parkinsonism associated deglycase | Usein (30–79%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Usein (30–79%) | 1 sairaudessa |
| PKDCCprotein kinase domain containing, cytoplasmic | Usein (30–79%) | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Usein (30–79%) | 1 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PRR12proline rich 12 | Usein (30–79%) | 1 sairaudessa |
| RAB3ARAB3A, member RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| REPS1RALBP1 associated Eps domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Usein (30–79%) | 1 sairaudessa |
| SLC1A4solute carrier family 1 member 4 | Usein (30–79%) | 1 sairaudessa |
| SLC9A7solute carrier family 9 member A7 | Usein (30–79%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| SPASTspastin | Usein (30–79%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Usein (30–79%) | 1 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Usein (30–79%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Usein (30–79%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Usein (30–79%) | 1 sairaudessa |
| THtyrosine hydroxylase | Usein (30–79%) | 1 sairaudessa |
| TMEM106Btransmembrane protein 106B | Usein (30–79%) | 1 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Usein (30–79%) | 1 sairaudessa |
| TSPOAP1TSPO associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| TUBGCP2tubulin gamma complex component 2 | Usein (30–79%) | 1 sairaudessa |
| UBQLN2ubiquilin 2 | Usein (30–79%) | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| VCPvalosin containing protein | Usein (30–79%) | 1 sairaudessa |
| WSB2WD repeat and SOCS box containing 2 | Usein (30–79%) | 1 sairaudessa |
| AASSaminoadipate-semialdehyde synthase | Joskus (5–29%) | 1 sairaudessa |
| CADM3cell adhesion molecule 3 | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CHMP1Acharged multivesicular body protein 1A | Joskus (5–29%) | 1 sairaudessa |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Joskus (5–29%) | 1 sairaudessa |
| COG5component of oligomeric golgi complex 5 | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| FBLN5fibulin 5 | Joskus (5–29%) | 1 sairaudessa |
| FTLferritin light chain | Joskus (5–29%) | 1 sairaudessa |
| GRM1glutamate metabotropic receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| PITRM1pitrilysin metallopeptidase 1 | Joskus (5–29%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Joskus (5–29%) | 2 sairaudessa |
| RNASEH1ribonuclease H1 | Joskus (5–29%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SETSET nuclear proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC39A14solute carrier family 39 member 14 | Joskus (5–29%) | 1 sairaudessa |
| SLC52A3solute carrier family 52 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A5solute carrier family 6 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SMC5structural maintenance of chromosomes 5 | Joskus (5–29%) | 1 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Joskus (5–29%) | 1 sairaudessa |
| WDR62WD repeat domain 62 | Joskus (5–29%) | 1 sairaudessa |
| CAMTA1calmodulin binding transcription activator 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| POU4F1POU class 4 homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ADSLadenylosuccinate lyase | Ei kirjattu | 1 sairaudessa |
| COX5Acytochrome c oxidase subunit 5A | Ei kirjattu | 1 sairaudessa |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ei kirjattu | 1 sairaudessa |
| GLE1GLE1 RNA export mediator | Ei kirjattu | 1 sairaudessa |
| IER3IP1immediate early response 3 interacting protein 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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