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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).
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/intention-tremor.json"
page <- fromJSON(url)
page$trait$nameIntention tremorHP:0002080
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Lugege välja geenid, mis on seotud Intention tremor-ga, ja kogu ülejäänud genoom ühe testiga.
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Telli oma Genome Test115 geeni on seotud tunnusega Intention tremor
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Intention tremor. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alati | Esineb 1 haiguses |
| AMACRalpha-methylacyl-CoA racemase | Alati | Esineb 1 haiguses |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Alati | Esineb 2 haiguses |
| CWF19L1CWF19 like cell cycle control factor 1 | Alati | Esineb 2 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Alati | Esineb 2 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 3 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LAMB1laminin subunit beta 1 | Alati | Esineb 1 haiguses |
| LEMD2LEM domain nuclear envelope protein 2 | Alati | Esineb 1 haiguses |
| LMAN2Llectin, mannose binding 2 like | Alati | Esineb 1 haiguses |
| MALmal, T cell differentiation protein (MAL blood group) | Alati | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Alati | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Alati | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 1 haiguses |
| POU4F1POU class 4 homeobox 1 | Alati | Esineb 2 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 3 haiguses |
| RNU12RNA, U12 small nuclear | Alati | Esineb 2 haiguses |
| SCP2sterol carrier protein 2 | Alati | Esineb 1 haiguses |
| SEMA6Bsemaphorin 6B | Alati | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Alati | Esineb 1 haiguses |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alati | Esineb 3 haiguses |
| TENM4teneurin transmembrane protein 4 | Alati | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Alati | Esineb 2 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Väga sageli (80–99%) | Esineb 2 haiguses |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATCAYATCAY kinesin light chain interacting caytaxin | Sageli (30–79%) | Esineb 2 haiguses |
| ATMATM serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN10ataxin 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Sageli (30–79%) | Esineb 2 haiguses |
| CSTBcystatin B | Sageli (30–79%) | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sageli (30–79%) | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO7F-box protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| FXNfrataxin | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 75 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GJB1gap junction protein beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK4potassium two pore domain channel subfamily K member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| MRE11MRE11 double strand break repair nuclease | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 2 haiguses |
| PRICKLE1prickle planar cell polarity protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| QRICH1glutamine rich 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB3ARAB3A, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RARS1arginyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RFC1replication factor C subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCARB2scavenger receptor class B member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SCYL1SCY1 like pseudokinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNCAsynuclein alpha | Sageli (30–79%) | Esineb 1 haiguses |
| TECRtrans-2,3-enoyl-CoA reductase | Sageli (30–79%) | Esineb 1 haiguses |
| TGM6transglutaminase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM240transmembrane protein 240 | Sageli (30–79%) | Esineb 1 haiguses |
| TPRtranslocated promoter region, nuclear basket protein | Sageli (30–79%) | Esineb 1 haiguses |
| TSPOAP1TSPO associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADPRSADP-ribosylserine hydrolase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANO10anoctamin 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARSAarylsulfatase A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Mõnikord (5–29%) | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SACSsacsin molecular chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM63Atransmembrane protein 63A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPK1thiamin pyrophosphokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTRtransthyretin | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Harva (1–4%) | Esineb 1 haiguses |
| NOP56NOP56 ribonucleoprotein | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Pole registreeritud | Esineb 2 haiguses |
| GSSglutathione synthetase | Pole registreeritud | Esineb 1 haiguses |
| ITM2Bintegral membrane protein 2B | Pole registreeritud | Esineb 1 haiguses |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Pole registreeritud | Esineb 1 haiguses |
| NFASCneurofascin | Pole registreeritud | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Pole registreeritud | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Pole registreeritud | Esineb 1 haiguses |
| TBPTATA-box binding protein | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Pole registreeritud | Esineb 1 haiguses |
| VLDLRvery low density lipoprotein receptor | Pole registreeritud | Esineb 1 haiguses |
| VWA3Bvon Willebrand factor A domain containing 3B | 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.
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 2026.10.17-8666dff2.
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Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast