Egenskap
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.
Sammendrag
- Også kalt
- 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
ReferansegenomGRCh38hg38
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Få mitt Genome Test153 gener knyttet til Lower limb spasticity
Endringer i disse genene forårsaker sjeldne tilstander der Lower limb spasticity forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Alltid | I 2 tilstander |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Alltid | I 2 tilstander |
| DARS1aspartyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Alltid | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Alltid | I 3 tilstander |
| ERLIN2ER lipid raft associated 2 | Alltid | I 2 tilstander |
| FA2Hfatty acid 2-hydroxylase | Alltid | I 2 tilstander |
| FBXO7F-box protein 7 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Alltid | I 3 tilstander |
| GJC2gap junction protein gamma 2 | Alltid | I 2 tilstander |
| GPRC5BG protein-coupled receptor class C group 5 member B | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| KIF1Akinesin family member 1A | Alltid | I 3 tilstander |
| KIF5Akinesin family member 5A | Alltid | I 2 tilstander |
| KPNA3karyopherin subunit alpha 3 | Alltid | I 2 tilstander |
| MTRFRmitochondrial translation release factor in rescue | Alltid | I 2 tilstander |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Alltid | I 2 tilstander |
| ODC1ornithine decarboxylase 1 | Alltid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Alltid | I 1 tilstand |
| RNF170ring finger protein 170 | Alltid | I 1 tilstand |
| RTN2reticulon 2 | Alltid | I 3 tilstander |
| SELENOIselenoprotein I | Alltid | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Alltid | I 2 tilstander |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SPARTspartin | Alltid | I 1 tilstand |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Alltid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Alltid | I 1 tilstand |
| TBCDtubulin folding cofactor D | Alltid | I 1 tilstand |
Vis 113 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TFGtrafficking from ER to golgi regulator | Alltid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Alltid | I 2 tilstander |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATL1atlastin GTPase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Svært ofte (80–99 %) | I 1 tilstand |
| CAPN1calpain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| COQ4coenzyme Q4 | Svært ofte (80–99 %) | I 1 tilstand |
| CPT1Ccarnitine palmitoyltransferase 1C | Svært ofte (80–99 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MTHFRmethylenetetrahydrofolate reductase | Svært ofte (80–99 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC33A1solute carrier family 33 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Svært ofte (80–99 %) | I 2 tilstander |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TARDBPTAR DNA binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Svært ofte (80–99 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| UBQLN2ubiquilin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Svært ofte (80–99 %) | I 2 tilstander |
| VAMP1vesicle associated membrane protein 1 | Svært 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 tilstander |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstander |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Noen ganger (5–29 %) | I 2 tilstander |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 2 tilstander |
| GAMTguanidinoacetate N-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCEAL1transcription elongation factor A like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 1 tilstand |
| VPS41VPS41 subunit of HOPS complex | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Sjelden (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjelden (1–4%) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjelden (1–4%) | I 1 tilstand |
| ACTL6Bactin like 6B | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Ikke registrert | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registrert | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ikke registrert | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registrert | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| REEP1receptor accessory protein 1 | Ikke registrert | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Datautgave 2026.10.16-c6eea6bf.
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