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Egenskap
Increased muscle tone of arm or leg
Klinisk navn: Limb hypertonia
Sammendrag
- Også kalt
- Appendicular hypertonia
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/limb-hypertonia.json"
page <- fromJSON(url)
page$trait$nameIncreased muscle tone of arm or legHP:0002509
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Les genene knyttet til Increased muscle tone of arm or leg, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test143 gener knyttet til Increased muscle tone of arm or leg
Endringer i disse genene forårsaker sjeldne tilstander der Increased muscle tone of arm or leg forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADCY5adenylate cyclase 5 | Alltid | I 2 tilstander |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Alltid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alltid | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Alltid | I 2 tilstander |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Alltid | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Alltid | I 2 tilstander |
| DDCdopa decarboxylase | Alltid | I 2 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Alltid | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Alltid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| GPHNgephyrin | Alltid | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Alltid | I 2 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Alltid | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Alltid | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Alltid | I 2 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Alltid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Alltid | I 2 tilstander |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Alltid | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Svært ofte (80–99 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Svært ofte (80–99 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstander |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
Vis 103 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| WDR48WD repeat domain 48 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Sjelden (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Sjelden (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sjelden (1–4%) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sjelden (1–4%) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sjelden (1–4%) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Sjelden (1–4%) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Sjelden (1–4%) | I 1 tilstand |
| CLTCclathrin heavy chain | Sjelden (1–4%) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sjelden (1–4%) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Sjelden (1–4%) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjelden (1–4%) | I 1 tilstand |
| DNM1dynamin 1 | Sjelden (1–4%) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| FBXO28F-box protein 28 | Sjelden (1–4%) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Sjelden (1–4%) | I 1 tilstand |
| FOXG1forkhead box G1 | Sjelden (1–4%) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Sjelden (1–4%) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sjelden (1–4%) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sjelden (1–4%) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sjelden (1–4%) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sjelden (1–4%) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sjelden (1–4%) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sjelden (1–4%) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sjelden (1–4%) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sjelden (1–4%) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sjelden (1–4%) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sjelden (1–4%) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Sjelden (1–4%) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Sjelden (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjelden (1–4%) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Sjelden (1–4%) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sjelden (1–4%) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ikke registrert | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registrert | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registrert | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registrert | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørKom i gangfra 449 $
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker