Træk
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).
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Bestil min Genome Test115 gener knyttet til Intention tremor
Ændringer i disse gener forårsager sjældne tilstande, hvor Intention tremor ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Altid | I 1 tilstand |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Altid | I 2 tilstande |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 2 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Altid | I 2 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 3 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Altid | I 1 tilstand |
| LEMD2LEM domain nuclear envelope protein 2 | Altid | I 1 tilstand |
| LMAN2Llectin, mannose binding 2 like | Altid | I 1 tilstand |
| MALmal, T cell differentiation protein (MAL blood group) | Altid | I 1 tilstand |
| PLP1proteolipid protein 1 | Altid | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Altid | I 2 tilstande |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 3 tilstande |
| RNU12RNA, U12 small nuclear | Altid | I 2 tilstande |
| SCP2sterol carrier protein 2 | Altid | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Altid | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Altid | I 1 tilstand |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altid | I 3 tilstande |
| TENM4teneurin transmembrane protein 4 | Altid | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altid | I 2 tilstande |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Meget ofte (80–99 %) | I 2 tilstande |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 2 tilstande |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATXN10ataxin 10 | Ofte (30–79 %) | I 1 tilstand |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Ofte (30–79 %) | I 2 tilstande |
| CSTBcystatin B | Ofte (30–79 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FXNfrataxin | Ofte (30–79 %) | I 1 tilstand |
Vis 75 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GJB1gap junction protein beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| PRICKLE1prickle planar cell polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RFC1replication factor C subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Ofte (30–79 %) | I 2 tilstande |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 1 tilstand |
| TECRtrans-2,3-enoyl-CoA reductase | Ofte (30–79 %) | I 1 tilstand |
| TGM6transglutaminase 6 | Ofte (30–79 %) | I 2 tilstande |
| TMCO1transmembrane and coiled-coil domains 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Ofte (30–79 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ofte (30–79 %) | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Nogle gange (5–29 %) | I 2 tilstande |
| ARSAarylsulfatase A | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Nogle gange (5–29 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Nogle gange (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Sjældent (1–4%) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 2 tilstande |
| GSSglutathione synthetase | Ikke registreret | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registreret | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ikke registreret | I 1 tilstand |
| TBPTATA-box binding protein | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| VLDLRvery low density lipoprotein receptor | Ikke registreret | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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