Cecha
Increased muscle tone of arm or leg
Nazwa kliniczna: Limb hypertonia
Podsumowanie
- Znana także jako
- Appendicular hypertonia
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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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Zamawiam Genome Test143 genów powiązanych z Increased muscle tone of arm or leg
Zmiany w tych genach powodują rzadkie choroby, w których występuje Increased muscle tone of arm or leg. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ADCY5adenylate cyclase 5 | Zawsze | W 2 chorobach |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Zawsze | W 1 chorobie |
| ARV1ARV1 fatty acid homeostasis modulator | Zawsze | W 1 chorobie |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Zawsze | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Zawsze | W 2 chorobach |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Zawsze | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Zawsze | W 2 chorobach |
| DDCdopa decarboxylase | Zawsze | W 2 chorobach |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Zawsze | W 2 chorobach |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Zawsze | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Zawsze | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Zawsze | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 1 chorobie |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| GPHNgephyrin | Zawsze | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Zawsze | W 2 chorobach |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Zawsze | W 1 chorobie |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Zawsze | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Zawsze | W 2 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Zawsze | W 1 chorobie |
| PRDM13PR/SET domain 13 | Zawsze | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Zawsze | W 2 chorobach |
| SLC31A1solute carrier family 31 member 1 | Zawsze | W 1 chorobie |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| TM2D3TM2 domain containing 3 | Zawsze | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Zawsze | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Bardzo często (80–99%) | W 1 chorobie |
| PGBD5piggyBac transposable element derived 5 | Bardzo często (80–99%) | W 1 chorobie |
| SLC30A9solute carrier family 30 member 9 | Bardzo często (80–99%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Często (30–79%) | W 2 chorobach |
| ARSIarylsulfatase family member I | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 103 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Często (30–79%) | W 1 chorobie |
| DHPSdeoxyhypusine synthase | Często (30–79%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Często (30–79%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 1 chorobie |
| EMC1ER membrane protein complex subunit 1 | Często (30–79%) | W 2 chorobach |
| FGF13fibroblast growth factor 13 | Często (30–79%) | W 1 chorobie |
| FRMD4AFERM domain containing 4A | Często (30–79%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Często (30–79%) | W 2 chorobach |
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| KIDINS220kinase D interacting substrate 220 | Często (30–79%) | W 1 chorobie |
| KIFBPkinesin family binding protein | Często (30–79%) | W 1 chorobie |
| MED11mediator complex subunit 11 | Często (30–79%) | W 1 chorobie |
| NCAPD3non-SMC condensin II complex subunit D3 | Często (30–79%) | W 1 chorobie |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Często (30–79%) | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Często (30–79%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Często (30–79%) | W 2 chorobach |
| SLC6A3solute carrier family 6 member 3 | Często (30–79%) | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Często (30–79%) | W 1 chorobie |
| SPRsepiapterin reductase | Często (30–79%) | W 1 chorobie |
| USP8ubiquitin specific peptidase 8 | Często (30–79%) | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Często (30–79%) | W 3 chorobach |
| WDR48WD repeat domain 48 | Często (30–79%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Czasami (5–29%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Czasami (5–29%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Czasami (5–29%) | W 1 chorobie |
| DPH5diphthamide biosynthesis 5 | Czasami (5–29%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Czasami (5–29%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Czasami (5–29%) | W 1 chorobie |
| KATNB1katanin regulatory subunit B1 | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 2 chorobach |
| AARS1alanyl-tRNA synthetase 1 | Rzadko (1–4%) | W 1 chorobie |
| ACTL6Bactin like 6B | Rzadko (1–4%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Rzadko (1–4%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Rzadko (1–4%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Rzadko (1–4%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Rzadko (1–4%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Rzadko (1–4%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Rzadko (1–4%) | W 1 chorobie |
| CLTCclathrin heavy chain | Rzadko (1–4%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Rzadko (1–4%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Rzadko (1–4%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Rzadko (1–4%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Rzadko (1–4%) | W 1 chorobie |
| DNM1dynamin 1 | Rzadko (1–4%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Rzadko (1–4%) | W 1 chorobie |
| FBXO28F-box protein 28 | Rzadko (1–4%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Rzadko (1–4%) | W 1 chorobie |
| FOXG1forkhead box G1 | Rzadko (1–4%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Rzadko (1–4%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Rzadko (1–4%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Rzadko (1–4%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Rzadko (1–4%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Rzadko (1–4%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Rzadko (1–4%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Rzadko (1–4%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Rzadko (1–4%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Rzadko (1–4%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Rzadko (1–4%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Rzadko (1–4%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Rzadko (1–4%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Rzadko (1–4%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Rzadko (1–4%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Rzadko (1–4%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Rzadko (1–4%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Rzadko (1–4%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Rzadko (1–4%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Rzadko (1–4%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Rzadko (1–4%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Nie odnotowano | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Nie odnotowano | W 1 chorobie |
| PCCApropionyl-CoA carboxylase subunit alpha | Nie odnotowano | W 1 chorobie |
| PCCBpropionyl-CoA carboxylase subunit beta | Nie odnotowano | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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