Piirre
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.
Yhteenveto
- Tunnetaan myös nimellä
- 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
- Elimistön järjestelmä
- Abnormality of the musculoskeletal systemAbnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Lower limb spasticity, and the rest of your genome, with one test.
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Tilaa Genome Test153 geeniä, jotka liittyvät piirteeseen Lower limb spasticity
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Lower limb spasticity esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Aina | 2 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Aina | 1 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 1 sairaudessa |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Aina | 2 sairaudessa |
| DARS1aspartyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Aina | 1 sairaudessa |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Aina | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Aina | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Aina | 3 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Aina | 2 sairaudessa |
| FA2Hfatty acid 2-hydroxylase | Aina | 2 sairaudessa |
| FBXO7F-box protein 7 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| GBA2glucosylceramidase beta 2 | Aina | 3 sairaudessa |
| GJC2gap junction protein gamma 2 | Aina | 2 sairaudessa |
| GPRC5BG protein-coupled receptor class C group 5 member B | Aina | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| KIF1Akinesin family member 1A | Aina | 3 sairaudessa |
| KIF5Akinesin family member 5A | Aina | 2 sairaudessa |
| KPNA3karyopherin subunit alpha 3 | Aina | 2 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Aina | 2 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Aina | 1 sairaudessa |
| NOTCH3notch receptor 3 | Aina | 1 sairaudessa |
| NT5C25'-nucleotidase, cytosolic II | Aina | 2 sairaudessa |
| ODC1ornithine decarboxylase 1 | Aina | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 1 sairaudessa |
| PGBD5piggyBac transposable element derived 5 | Aina | 1 sairaudessa |
| POLR1ARNA polymerase I subunit A | Aina | 1 sairaudessa |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Aina | 1 sairaudessa |
| RFXANKregulatory factor X associated ankyrin containing protein | Aina | 1 sairaudessa |
| RNF170ring finger protein 170 | Aina | 1 sairaudessa |
| RTN2reticulon 2 | Aina | 3 sairaudessa |
| SELENOIselenoprotein I | Aina | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Aina | 2 sairaudessa |
| SOD1superoxide dismutase 1 | Aina | 1 sairaudessa |
| SPARTspartin | Aina | 1 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Aina | 1 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Aina | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Aina | 1 sairaudessa |
Näytä 113 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| TFGtrafficking from ER to golgi regulator | Aina | 1 sairaudessa |
| TMEM63Ctransmembrane protein 63C | Aina | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Aina | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Aina | 2 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATL1atlastin GTPase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CAPN1calpain 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| COQ4coenzyme Q4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CPT1Ccarnitine palmitoyltransferase 1C | Hyvin usein (80–99%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Hyvin usein (80–99%) | 1 sairaudessa |
| NIPA1NIPA magnesium transporter 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PLP1proteolipid protein 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| SLC33A1solute carrier family 33 member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Hyvin usein (80–99%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Hyvin usein (80–99%) | 2 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TARDBPTAR DNA binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| UBAP1ubiquitin associated protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| UBQLN2ubiquilin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Hyvin usein (80–99%) | 2 sairaudessa |
| VAMP1vesicle associated membrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACBD6acyl-CoA binding domain containing 6 | Usein (30–79%) | 1 sairaudessa |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Usein (30–79%) | 2 sairaudessa |
| ARSIarylsulfatase family member I | Usein (30–79%) | 1 sairaudessa |
| ARXaristaless related homeobox | Usein (30–79%) | 2 sairaudessa |
| BCL11ABCL11 transcription factor A | Usein (30–79%) | 1 sairaudessa |
| COQ5coenzyme Q5, methyltransferase | Usein (30–79%) | 1 sairaudessa |
| DDHD1DDHD domain containing 1 | Usein (30–79%) | 2 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| GALCgalactosylceramidase | Usein (30–79%) | 2 sairaudessa |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 2 sairaudessa |
| HEPACAMhepatic and glial cell adhesion molecule | Usein (30–79%) | 1 sairaudessa |
| HIKESHIheat shock protein nuclear import factor hikeshi | Usein (30–79%) | 1 sairaudessa |
| HSPD1heat shock protein family D (Hsp60) member 1 | Usein (30–79%) | 2 sairaudessa |
| KYkyphoscoliosis peptidase | Usein (30–79%) | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Usein (30–79%) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Usein (30–79%) | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Usein (30–79%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Usein (30–79%) | 2 sairaudessa |
| PSAPprosaposin | Usein (30–79%) | 1 sairaudessa |
| RAB18RAB18, member RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RARS1arginyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Usein (30–79%) | 1 sairaudessa |
| REPS1RALBP1 associated Eps domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| SACSsacsin molecular chaperone | Usein (30–79%) | 1 sairaudessa |
| SLC1A4solute carrier family 1 member 4 | Usein (30–79%) | 1 sairaudessa |
| SPASTspastin | Usein (30–79%) | 2 sairaudessa |
| TSPOAP1TSPO associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| TTI1TELO2 interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| UBE4Aubiquitination factor E4A | Usein (30–79%) | 1 sairaudessa |
| USP8ubiquitin specific peptidase 8 | Usein (30–79%) | 1 sairaudessa |
| WDR48WD repeat domain 48 | Usein (30–79%) | 1 sairaudessa |
| WWOXWW domain containing oxidoreductase | Usein (30–79%) | 1 sairaudessa |
| XPO1exportin 1 | Usein (30–79%) | 1 sairaudessa |
| ZFRzinc finger RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | Usein (30–79%) | 2 sairaudessa |
| ZNF668zinc finger protein 668 | Usein (30–79%) | 1 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Joskus (5–29%) | 1 sairaudessa |
| ADGRG1adhesion G protein-coupled receptor G1 | Joskus (5–29%) | 1 sairaudessa |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ATXN10ataxin 10 | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CLCN4Cl-/H+ antiporter 4 | Joskus (5–29%) | 2 sairaudessa |
| CLTCclathrin heavy chain | Joskus (5–29%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Joskus (5–29%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Joskus (5–29%) | 2 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Joskus (5–29%) | 2 sairaudessa |
| GAMTguanidinoacetate N-methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| GATAD2BGATA zinc finger domain containing 2B | Joskus (5–29%) | 1 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Joskus (5–29%) | 1 sairaudessa |
| INPP5Kinositol polyphosphate-5-phosphatase K | Joskus (5–29%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Joskus (5–29%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Joskus (5–29%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Joskus (5–29%) | 1 sairaudessa |
| RAB3ARAB3A, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| SATB1SATB homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| SRPX2sushi repeat containing protein X-linked 2 | Joskus (5–29%) | 1 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TCEAL1transcription elongation factor A like 1 | Joskus (5–29%) | 1 sairaudessa |
| TPK1thiamin pyrophosphokinase 1 | Joskus (5–29%) | 1 sairaudessa |
| VCPvalosin containing protein | Joskus (5–29%) | 1 sairaudessa |
| VPS41VPS41 subunit of HOPS complex | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Harvinainen (1–4 %) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harvinainen (1–4 %) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ACTL6Bactin like 6B | Ei kirjattu | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ei kirjattu | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Ei kirjattu | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ei kirjattu | 1 sairaudessa |
| CCT5chaperonin containing TCP1 subunit 5 | Ei kirjattu | 1 sairaudessa |
| L1CAML1 cell adhesion molecule | Ei kirjattu | 1 sairaudessa |
| MRE11MRE11 double strand break repair nuclease | Ei kirjattu | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ei kirjattu | 1 sairaudessa |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| REEP1receptor accessory protein 1 | Ei kirjattu | 1 sairaudessa |
| VWA3Bvon Willebrand factor A domain containing 3B | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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