Kenmerk
Increased muscle tone of arm or leg
Klinische naam: Limb hypertonia
Samenvatting
- Ook bekend als
- Appendicular hypertonia
ReferentiegenoomGRCh38hg38
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Mijn Genome Test bestellen143 genen gekoppeld aan Increased muscle tone of arm or leg
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Increased muscle tone of arm or leg voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADCY5adenylate cyclase 5 | Altijd | In 2 aandoeningen |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Altijd | In 1 aandoening |
| ARV1ARV1 fatty acid homeostasis modulator | Altijd | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altijd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Altijd | In 2 aandoeningen |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altijd | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Altijd | In 2 aandoeningen |
| DDCdopa decarboxylase | Altijd | In 2 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altijd | In 2 aandoeningen |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Altijd | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altijd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Altijd | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altijd | In 1 aandoening |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| GPHNgephyrin | Altijd | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Altijd | In 2 aandoeningen |
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Altijd | In 1 aandoening |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altijd | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Altijd | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altijd | In 1 aandoening |
| PRDM13PR/SET domain 13 | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Altijd | In 2 aandoeningen |
| SLC31A1solute carrier family 31 member 1 | Altijd | In 1 aandoening |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Altijd | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Heel vaak (80–99%) | In 1 aandoening |
| PGBD5piggyBac transposable element derived 5 | Heel vaak (80–99%) | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Heel vaak (80–99%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| ARSIarylsulfatase family member I | Vaak (30–79%) | In 1 aandoening |
Toon nog 103 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Vaak (30–79%) | In 1 aandoening |
| DHPSdeoxyhypusine synthase | Vaak (30–79%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Vaak (30–79%) | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Vaak (30–79%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| FGF13fibroblast growth factor 13 | Vaak (30–79%) | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Vaak (30–79%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| KIDINS220kinase D interacting substrate 220 | Vaak (30–79%) | In 1 aandoening |
| KIFBPkinesin family binding protein | Vaak (30–79%) | In 1 aandoening |
| MED11mediator complex subunit 11 | Vaak (30–79%) | In 1 aandoening |
| NCAPD3non-SMC condensin II complex subunit D3 | Vaak (30–79%) | In 1 aandoening |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Vaak (30–79%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Vaak (30–79%) | In 2 aandoeningen |
| SLC6A3solute carrier family 6 member 3 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SPRsepiapterin reductase | Vaak (30–79%) | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 3 aandoeningen |
| WDR48WD repeat domain 48 | Vaak (30–79%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Soms (5–29%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Soms (5–29%) | In 1 aandoening |
| DPH5diphthamide biosynthesis 5 | Soms (5–29%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 1 aandoening |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HK1hexokinase 1 | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Soms (5–29%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Soms (5–29%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 2 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Zelden (1–4%) | In 1 aandoening |
| ACTL6Bactin like 6B | Zelden (1–4%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zelden (1–4%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Zelden (1–4%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Zelden (1–4%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Zelden (1–4%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zelden (1–4%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Zelden (1–4%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Zelden (1–4%) | In 1 aandoening |
| CLTCclathrin heavy chain | Zelden (1–4%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Zelden (1–4%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Zelden (1–4%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Zelden (1–4%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Zelden (1–4%) | In 1 aandoening |
| DNM1dynamin 1 | Zelden (1–4%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Zelden (1–4%) | In 1 aandoening |
| FBXO28F-box protein 28 | Zelden (1–4%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Zelden (1–4%) | In 1 aandoening |
| FOXG1forkhead box G1 | Zelden (1–4%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Zelden (1–4%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Zelden (1–4%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Zelden (1–4%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Zelden (1–4%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Zelden (1–4%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Zelden (1–4%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Zelden (1–4%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Zelden (1–4%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Zelden (1–4%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Zelden (1–4%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Zelden (1–4%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zelden (1–4%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Zelden (1–4%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Zelden (1–4%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Zelden (1–4%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Zelden (1–4%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Zelden (1–4%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Zelden (1–4%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Zelden (1–4%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zelden (1–4%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Zelden (1–4%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Zelden (1–4%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Zelden (1–4%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Zelden (1–4%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Zelden (1–4%) | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Niet vastgelegd | In 1 aandoening |
| PCCApropionyl-CoA carboxylase subunit alpha | Niet vastgelegd | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Niet vastgelegd | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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