Træk
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.
Resumé
- Også kaldet
- 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
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test153 gener knyttet til Lower limb spasticity
Ændringer i disse gener forårsager sjældne tilstande, hvor Lower limb spasticity 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 |
|---|---|---|
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Altid | I 2 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altid | I 2 tilstande |
| DARS1aspartyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Altid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Altid | I 3 tilstande |
| ERLIN2ER lipid raft associated 2 | Altid | I 2 tilstande |
| FA2Hfatty acid 2-hydroxylase | Altid | I 2 tilstande |
| FBXO7F-box protein 7 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Altid | I 3 tilstande |
| GJC2gap junction protein gamma 2 | Altid | I 2 tilstande |
| GPRC5BG protein-coupled receptor class C group 5 member B | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| KIF1Akinesin family member 1A | Altid | I 3 tilstande |
| KIF5Akinesin family member 5A | Altid | I 2 tilstande |
| KPNA3karyopherin subunit alpha 3 | Altid | I 2 tilstande |
| MTRFRmitochondrial translation release factor in rescue | Altid | I 2 tilstande |
| NFU1NFU1 iron-sulfur cluster scaffold | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 2 tilstande |
| ODC1ornithine decarboxylase 1 | Altid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Altid | I 1 tilstand |
| RNF170ring finger protein 170 | Altid | I 1 tilstand |
| RTN2reticulon 2 | Altid | I 3 tilstande |
| SELENOIselenoprotein I | Altid | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Altid | I 2 tilstande |
| SOD1superoxide dismutase 1 | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Altid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Altid | I 1 tilstand |
| TBCDtubulin folding cofactor D | Altid | I 1 tilstand |
Vis 113 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TFGtrafficking from ER to golgi regulator | Altid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Altid | I 2 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATL1atlastin GTPase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Meget ofte (80–99 %) | I 1 tilstand |
| CAPN1calpain 1 | Meget ofte (80–99 %) | I 2 tilstande |
| COQ4coenzyme Q4 | Meget ofte (80–99 %) | I 1 tilstand |
| CPT1Ccarnitine palmitoyltransferase 1C | Meget ofte (80–99 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MTHFRmethylenetetrahydrofolate reductase | Meget ofte (80–99 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC33A1solute carrier family 33 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Meget ofte (80–99 %) | I 2 tilstande |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TARDBPTAR DNA binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Meget ofte (80–99 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| UBQLN2ubiquilin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Meget ofte (80–99 %) | I 2 tilstande |
| VAMP1vesicle associated membrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 2 tilstande |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 2 tilstande |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstande |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstande |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Ofte (30–79 %) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ofte (30–79 %) | I 2 tilstande |
| KYkyphoscoliosis peptidase | Ofte (30–79 %) | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Ofte (30–79 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Ofte (30–79 %) | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 2 tilstande |
| PSAPprosaposin | Ofte (30–79 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SPASTspastin | Ofte (30–79 %) | I 2 tilstande |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TTI1TELO2 interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| UBE4Aubiquitination factor E4A | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 1 tilstand |
| WDR48WD repeat domain 48 | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 2 tilstande |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Nogle gange (5–29 %) | I 2 tilstande |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 2 tilstande |
| GAMTguanidinoacetate N-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCEAL1transcription elongation factor A like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Sjældent (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjældent (1–4%) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Ikke registreret | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Ikke registreret | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registreret | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ikke registreret | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registreret | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| REEP1receptor accessory protein 1 | Ikke registreret | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | 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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger