Trait
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.
Summary
- Also called
- 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
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Lower limb spasticity, and the rest of your genome, with one test.
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Get my Genome Test153 genes linked to Lower limb spasticity
Changes in these genes cause rare conditions in which Lower limb spasticity is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Always | In 2 conditions |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Always | In 1 condition |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Always | In 2 conditions |
| DARS1aspartyl-tRNA synthetase 1 | Always | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Always | In 1 condition |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Always | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Always | In 3 conditions |
| ERLIN2ER lipid raft associated 2 | Always | In 2 conditions |
| FA2Hfatty acid 2-hydroxylase | Always | In 2 conditions |
| FBXO7F-box protein 7 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| GBA2glucosylceramidase beta 2 | Always | In 3 conditions |
| GJC2gap junction protein gamma 2 | Always | In 2 conditions |
| GPRC5BG protein-coupled receptor class C group 5 member B | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| KIF1Akinesin family member 1A | Always | In 3 conditions |
| KIF5Akinesin family member 5A | Always | In 2 conditions |
| KPNA3karyopherin subunit alpha 3 | Always | In 2 conditions |
| MTRFRmitochondrial translation release factor in rescue | Always | In 2 conditions |
| NFU1NFU1 iron-sulfur cluster scaffold | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Always | In 2 conditions |
| ODC1ornithine decarboxylase 1 | Always | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Always | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Always | In 1 condition |
| RFXANKregulatory factor X associated ankyrin containing protein | Always | In 1 condition |
| RNF170ring finger protein 170 | Always | In 1 condition |
| RTN2reticulon 2 | Always | In 3 conditions |
| SELENOIselenoprotein I | Always | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Always | In 2 conditions |
| SOD1superoxide dismutase 1 | Always | In 1 condition |
| SPARTspartin | Always | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Always | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Always | In 1 condition |
| TBCDtubulin folding cofactor D | Always | In 1 condition |
Show 113 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TFGtrafficking from ER to golgi regulator | Always | In 1 condition |
| TMEM63Ctransmembrane protein 63C | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| WASHC5WASH complex subunit 5 | Always | In 2 conditions |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Very often (80–99%) | In 2 conditions |
| ATL1atlastin GTPase 1 | Very often (80–99%) | In 2 conditions |
| ATP13A2ATPase cation transporting 13A2 | Very often (80–99%) | In 1 condition |
| CAPN1calpain 1 | Very often (80–99%) | In 2 conditions |
| COQ4coenzyme Q4 | Very often (80–99%) | In 1 condition |
| CPT1Ccarnitine palmitoyltransferase 1C | Very often (80–99%) | In 1 condition |
| FUSFUS RNA binding protein | Very often (80–99%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Very often (80–99%) | In 2 conditions |
| MTHFRmethylenetetrahydrofolate reductase | Very often (80–99%) | In 1 condition |
| NIPA1NIPA magnesium transporter 1 | Very often (80–99%) | In 2 conditions |
| PLP1proteolipid protein 1 | Very often (80–99%) | In 3 conditions |
| SLC33A1solute carrier family 33 member 1 | Very often (80–99%) | In 1 condition |
| SORDsorbitol dehydrogenase | Very often (80–99%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Very often (80–99%) | In 2 conditions |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Very often (80–99%) | In 2 conditions |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Very often (80–99%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 2 conditions |
| TARDBPTAR DNA binding protein | Very often (80–99%) | In 1 condition |
| TRMT2BtRNA methyltransferase 2B | Very often (80–99%) | In 1 condition |
| UBAP1ubiquitin associated protein 1 | Very often (80–99%) | In 2 conditions |
| UBQLN2ubiquilin 2 | Very often (80–99%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Very often (80–99%) | In 2 conditions |
| VAMP1vesicle associated membrane protein 1 | Very often (80–99%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Often (30–79%) | In 1 condition |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Often (30–79%) | In 2 conditions |
| ARSIarylsulfatase family member I | Often (30–79%) | In 1 condition |
| ARXaristaless related homeobox | Often (30–79%) | In 2 conditions |
| BCL11ABCL11 transcription factor A | Often (30–79%) | In 1 condition |
| COQ5coenzyme Q5, methyltransferase | Often (30–79%) | In 1 condition |
| DDHD1DDHD domain containing 1 | Often (30–79%) | In 2 conditions |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| GALCgalactosylceramidase | Often (30–79%) | In 2 conditions |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 2 conditions |
| HEPACAMhepatic and glial cell adhesion molecule | Often (30–79%) | In 1 condition |
| HIKESHIheat shock protein nuclear import factor hikeshi | Often (30–79%) | In 1 condition |
| HSPD1heat shock protein family D (Hsp60) member 1 | Often (30–79%) | In 2 conditions |
| KYkyphoscoliosis peptidase | Often (30–79%) | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Often (30–79%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Often (30–79%) | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Often (30–79%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Often (30–79%) | In 2 conditions |
| PSAPprosaposin | Often (30–79%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Often (30–79%) | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| RELREL proto-oncogene, NF-kB subunit | Often (30–79%) | In 1 condition |
| REPS1RALBP1 associated Eps domain containing 1 | Often (30–79%) | In 1 condition |
| SACSsacsin molecular chaperone | Often (30–79%) | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Often (30–79%) | In 1 condition |
| SPASTspastin | Often (30–79%) | In 2 conditions |
| TSPOAP1TSPO associated protein 1 | Often (30–79%) | In 1 condition |
| TTI1TELO2 interacting protein 1 | Often (30–79%) | In 1 condition |
| UBE4Aubiquitination factor E4A | Often (30–79%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Often (30–79%) | In 1 condition |
| WDR48WD repeat domain 48 | Often (30–79%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Often (30–79%) | In 1 condition |
| XPO1exportin 1 | Often (30–79%) | In 1 condition |
| ZFRzinc finger RNA binding protein | Often (30–79%) | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | Often (30–79%) | In 2 conditions |
| ZNF668zinc finger protein 668 | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ADGRG1adhesion G protein-coupled receptor G1 | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ATXN10ataxin 10 | Sometimes (5–29%) | In 1 condition |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sometimes (5–29%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Sometimes (5–29%) | In 2 conditions |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 2 conditions |
| GAMTguanidinoacetate N-methyltransferase | Sometimes (5–29%) | In 1 condition |
| GATAD2BGATA zinc finger domain containing 2B | Sometimes (5–29%) | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| INPP5Kinositol polyphosphate-5-phosphatase K | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 1 condition |
| NEU1neuraminidase 1 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Sometimes (5–29%) | In 1 condition |
| RAB3ARAB3A, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SRPX2sushi repeat containing protein X-linked 2 | Sometimes (5–29%) | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Sometimes (5–29%) | In 1 condition |
| TCEAL1transcription elongation factor A like 1 | Sometimes (5–29%) | In 1 condition |
| TPK1thiamin pyrophosphokinase 1 | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 1 condition |
| VPS41VPS41 subunit of HOPS complex | Sometimes (5–29%) | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Rarely (1–4%) | In 1 condition |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Rarely (1–4%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Rarely (1–4%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Rarely (1–4%) | In 1 condition |
| ACTL6Bactin like 6B | Not recorded | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Not recorded | In 1 condition |
| BICD2BICD cargo adaptor 2 | Not recorded | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Not recorded | In 1 condition |
| CCT5chaperonin containing TCP1 subunit 5 | Not recorded | In 1 condition |
| L1CAML1 cell adhesion molecule | Not recorded | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Not recorded | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Not recorded | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| REEP1receptor accessory protein 1 | Not recorded | In 1 condition |
| VWA3Bvon Willebrand factor A domain containing 3B | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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