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Požymis
Lower limb spasticity
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.
Santrauka
- Taip pat vadinama
- Lower extremities spasticity, Lower extremity spasticity, Spastic lower extremities, Spastic lower extremity, Spastic lower limb, Spastic lower limbs, Spasticity in lower extremities, Spasticity in lower extremity, Spasticity in lower limb, Spasticity in lower limbs, Spasticity of lower extremities, Spasticity of lower extremity, Spasticity of lower limb, Spasticity of lower limbs
Lower limb spasticityHP:0002061
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Read the genes linked to Lower limb spasticity, and the rest of your genome, with one test.
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Įsigyti savo Genome Test153 genų susiję su Lower limb spasticity
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Lower limb spasticity. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Visada | 2 ligose |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Visada | 2 ligose |
| DARS1aspartyl-tRNA synthetase 1 | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Visada | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Visada | 3 ligose |
| ERLIN2ER lipid raft associated 2 | Visada | 2 ligose |
| FA2Hfatty acid 2-hydroxylase | Visada | 2 ligose |
| FBXO7F-box protein 7 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Visada | 3 ligose |
| GJC2gap junction protein gamma 2 | Visada | 2 ligose |
| GPRC5BG protein-coupled receptor class C group 5 member B | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KIF1Akinesin family member 1A | Visada | 3 ligose |
| KIF5Akinesin family member 5A | Visada | 2 ligose |
| KPNA3karyopherin subunit alpha 3 | Visada | 2 ligose |
| MTRFRmitochondrial translation release factor in rescue | Visada | 2 ligose |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| NT5C25'-nucleotidase, cytosolic II | Visada | 2 ligose |
| ODC1ornithine decarboxylase 1 | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Visada | 1 ligoje |
| RFXANKregulatory factor X associated ankyrin containing protein | Visada | 1 ligoje |
| RNF170ring finger protein 170 | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 3 ligose |
| SELENOIselenoprotein I | Visada | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Visada | 2 ligose |
| SOD1superoxide dismutase 1 | Visada | 1 ligoje |
| SPARTspartin | Visada | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Visada | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Visada | 1 ligoje |
| TBCDtubulin folding cofactor D | Visada | 1 ligoje |
Rodyti dar 113 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TFGtrafficking from ER to golgi regulator | Visada | 1 ligoje |
| TMEM63Ctransmembrane protein 63C | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| WASHC5WASH complex subunit 5 | Visada | 2 ligose |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Labai dažnai (80–99%) | 2 ligose |
| ATL1atlastin GTPase 1 | Labai dažnai (80–99%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Labai dažnai (80–99%) | 1 ligoje |
| CAPN1calpain 1 | Labai dažnai (80–99%) | 2 ligose |
| COQ4coenzyme Q4 | Labai dažnai (80–99%) | 1 ligoje |
| CPT1Ccarnitine palmitoyltransferase 1C | Labai dažnai (80–99%) | 1 ligoje |
| FUSFUS RNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Labai dažnai (80–99%) | 2 ligose |
| MTHFRmethylenetetrahydrofolate reductase | Labai dažnai (80–99%) | 1 ligoje |
| NIPA1NIPA magnesium transporter 1 | Labai dažnai (80–99%) | 2 ligose |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 3 ligose |
| SLC33A1solute carrier family 33 member 1 | Labai dažnai (80–99%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Labai dažnai (80–99%) | 2 ligose |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Labai dažnai (80–99%) | 2 ligose |
| TARDBPTAR DNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Labai dažnai (80–99%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Labai dažnai (80–99%) | 2 ligose |
| UBQLN2ubiquilin 2 | Labai dažnai (80–99%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Labai dažnai (80–99%) | 2 ligose |
| VAMP1vesicle associated membrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 2 ligose |
| ARSIarylsulfatase family member I | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| COQ5coenzyme Q5, methyltransferase | Dažnai (30–79%) | 1 ligoje |
| DDHD1DDHD domain containing 1 | Dažnai (30–79%) | 2 ligose |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| GALCgalactosylceramidase | Dažnai (30–79%) | 2 ligose |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 2 ligose |
| HEPACAMhepatic and glial cell adhesion molecule | Dažnai (30–79%) | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Dažnai (30–79%) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Dažnai (30–79%) | 2 ligose |
| KYkyphoscoliosis peptidase | Dažnai (30–79%) | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Dažnai (30–79%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Dažnai (30–79%) | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Dažnai (30–79%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Dažnai (30–79%) | 2 ligose |
| PSAPprosaposin | Dažnai (30–79%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| REPS1RALBP1 associated Eps domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SACSsacsin molecular chaperone | Dažnai (30–79%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Dažnai (30–79%) | 1 ligoje |
| SPASTspastin | Dažnai (30–79%) | 2 ligose |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TTI1TELO2 interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| UBE4Aubiquitination factor E4A | Dažnai (30–79%) | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Dažnai (30–79%) | 1 ligoje |
| WDR48WD repeat domain 48 | Dažnai (30–79%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ZFRzinc finger RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | Dažnai (30–79%) | 2 ligose |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ATXN10ataxin 10 | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Kartais (5–29%) | 2 ligose |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 2 ligose |
| GAMTguanidinoacetate N-methyltransferase | Kartais (5–29%) | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Kartais (5–29%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| INPP5Kinositol polyphosphate-5-phosphatase K | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Kartais (5–29%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Kartais (5–29%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Kartais (5–29%) | 1 ligoje |
| TCEAL1transcription elongation factor A like 1 | Kartais (5–29%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| VPS41VPS41 subunit of HOPS complex | Kartais (5–29%) | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Retai (1–4 %) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Retai (1–4 %) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Retai (1–4 %) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| ACTL6Bactin like 6B | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| CCT5chaperonin containing TCP1 subunit 5 | Neužfiksuota | 1 ligoje |
| L1CAML1 cell adhesion molecule | Neužfiksuota | 1 ligoje |
| MRE11MRE11 double strand break repair nuclease | Neužfiksuota | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Neužfiksuota | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| REEP1receptor accessory protein 1 | Neužfiksuota | 1 ligoje |
| VWA3Bvon Willebrand factor A domain containing 3B | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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