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Požymis
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Intention tremorHP:0002080
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Read the genes linked to Intention tremor, and the rest of your genome, with one test.
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Įsigyti savo Genome Test115 genų susiję su Intention tremor
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Intention tremor. 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 |
| AMACRalpha-methylacyl-CoA racemase | Visada | 1 ligoje |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Visada | 2 ligose |
| CWF19L1CWF19 like cell cycle control factor 1 | Visada | 2 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Visada | 2 ligose |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 3 ligose |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LAMB1laminin subunit beta 1 | Visada | 1 ligoje |
| LEMD2LEM domain nuclear envelope protein 2 | Visada | 1 ligoje |
| LMAN2Llectin, mannose binding 2 like | Visada | 1 ligoje |
| MALmal, T cell differentiation protein (MAL blood group) | Visada | 1 ligoje |
| PLP1proteolipid protein 1 | Visada | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Visada | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Visada | 2 ligose |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 3 ligose |
| RNU12RNA, U12 small nuclear | Visada | 2 ligose |
| SCP2sterol carrier protein 2 | Visada | 1 ligoje |
| SEMA6Bsemaphorin 6B | Visada | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Visada | 1 ligoje |
| SPTBN2spectrin beta, non-erythrocytic 2 | Visada | 3 ligose |
| TENM4teneurin transmembrane protein 4 | Visada | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Visada | 2 ligose |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Labai dažnai (80–99%) | 2 ligose |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Labai dažnai (80–99%) | 1 ligoje |
| ATCAYATCAY kinesin light chain interacting caytaxin | Dažnai (30–79%) | 2 ligose |
| ATMATM serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| ATXN10ataxin 10 | Dažnai (30–79%) | 1 ligoje |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Dažnai (30–79%) | 2 ligose |
| CSTBcystatin B | Dažnai (30–79%) | 1 ligoje |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 1 ligoje |
| FXNfrataxin | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 75 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GJB1gap junction protein beta 1 | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| KCNK4potassium two pore domain channel subfamily K member 4 | Dažnai (30–79%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Dažnai (30–79%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 1 ligoje |
| MRE11MRE11 double strand break repair nuclease | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 2 ligose |
| PRICKLE1prickle planar cell polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| QRICH1glutamine rich 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RFC1replication factor C subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCARB2scavenger receptor class B member 2 | Dažnai (30–79%) | 2 ligose |
| SCYL1SCY1 like pseudokinase 1 | Dažnai (30–79%) | 1 ligoje |
| SNCAsynuclein alpha | Dažnai (30–79%) | 1 ligoje |
| TECRtrans-2,3-enoyl-CoA reductase | Dažnai (30–79%) | 1 ligoje |
| TGM6transglutaminase 6 | Dažnai (30–79%) | 2 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Dažnai (30–79%) | 1 ligoje |
| TMEM240transmembrane protein 240 | Dažnai (30–79%) | 1 ligoje |
| TPRtranslocated promoter region, nuclear basket protein | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| WDR81WD repeat domain 81 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Kartais (5–29%) | 1 ligoje |
| ADPRSADP-ribosylserine hydrolase | Kartais (5–29%) | 1 ligoje |
| ANO10anoctamin 10 | Kartais (5–29%) | 2 ligose |
| ARSAarylsulfatase A | Kartais (5–29%) | 2 ligose |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Kartais (5–29%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Kartais (5–29%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Kartais (5–29%) | 1 ligoje |
| OPHN1oligophrenin 1 | Kartais (5–29%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Kartais (5–29%) | 1 ligoje |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Kartais (5–29%) | 1 ligoje |
| RFC4replication factor C subunit 4 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| SACSsacsin molecular chaperone | Kartais (5–29%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Kartais (5–29%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Kartais (5–29%) | 1 ligoje |
| TTRtransthyretin | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Retai (1–4 %) | 1 ligoje |
| NOP56NOP56 ribonucleoprotein | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| GJC2gap junction protein gamma 2 | Neužfiksuota | 2 ligose |
| GSSglutathione synthetase | Neužfiksuota | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Neužfiksuota | 1 ligoje |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Neužfiksuota | 1 ligoje |
| NFASCneurofascin | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| PTENphosphatase and tensin homolog | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Neužfiksuota | 1 ligoje |
| VWA3Bvon Willebrand factor A domain containing 3B | 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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