Træk
Increased muscle tone of arm or leg
Klinisk navn: Limb hypertonia
Resumé
- Også kaldet
- Appendicular hypertonia
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Increased muscle tone of arm or leg, and the rest of your genome, with one test.
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Bestil min Genome Test143 gener knyttet til Increased muscle tone of arm or leg
Ændringer i disse gener forårsager sjældne tilstande, hvor Increased muscle tone of arm or leg 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 |
|---|---|---|
| ADCY5adenylate cyclase 5 | Altid | I 2 tilstande |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Altid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Altid | I 2 tilstande |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altid | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Altid | I 2 tilstande |
| DDCdopa decarboxylase | Altid | I 2 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Altid | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Altid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| GPHNgephyrin | Altid | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Altid | I 2 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Altid | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Altid | I 2 tilstande |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Altid | I 2 tilstande |
| SLC31A1solute carrier family 31 member 1 | Altid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Altid | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Meget ofte (80–99 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstande |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
Vis 103 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ofte (30–79 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| FGF13fibroblast growth factor 13 | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Ofte (30–79 %) | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Ofte (30–79 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Ofte (30–79 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Ofte (30–79 %) | I 2 tilstande |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 3 tilstande |
| WDR48WD repeat domain 48 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Nogle gange (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Nogle gange (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Sjældent (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjældent (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sjældent (1–4%) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjældent (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjældent (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjældent (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjældent (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjældent (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjældent (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjældent (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjældent (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjældent (1–4%) | I 1 tilstand |
| DNM1dynamin 1 | Sjældent (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjældent (1–4%) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Sjældent (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjældent (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjældent (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sjældent (1–4%) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sjældent (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjældent (1–4%) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjældent (1–4%) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjældent (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjældent (1–4%) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sjældent (1–4%) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sjældent (1–4%) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sjældent (1–4%) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sjældent (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjældent (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjældent (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjældent (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjældent (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjældent (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjældent (1–4%) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjældent (1–4%) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sjældent (1–4%) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ikke registreret | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registreret | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registreret | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registreret | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | 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.
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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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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger