Trait
Spastic paraplegia
Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.
Summary
- Also called
- Spastic paraplegia, lower limb
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Spastic paraplegia, and the rest of your genome, with one test.
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Get my Genome Test110 genes linked to Spastic paraplegia
Changes in these genes cause rare conditions in which Spastic paraplegia 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 |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Always | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Always | In 2 conditions |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Always | In 2 conditions |
| AMFRautocrine motility factor receptor | Always | In 1 condition |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Always | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Always | In 1 condition |
| CPT1Ccarnitine palmitoyltransferase 1C | Always | In 1 condition |
| DDHD2DDHD domain containing 2 | Always | In 2 conditions |
| DSTYKdual serine/threonine and tyrosine protein kinase | Always | In 2 conditions |
| ELOVL1ELOVL fatty acid elongase 1 | Always | In 1 condition |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Always | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GBA2glucosylceramidase beta 2 | Always | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Always | In 1 condition |
| GJC2gap junction protein gamma 2 | Always | In 1 condition |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Always | In 2 conditions |
| HSPD1heat shock protein family D (Hsp60) member 1 | Always | In 3 conditions |
| INTS8integrator complex subunit 8 | Always | In 1 condition |
| KIDINS220kinase D interacting substrate 220 | Always | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Always | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Always | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Always | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Always | In 2 conditions |
| PEX3peroxisomal biogenesis factor 3 | Always | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Always | In 1 condition |
| PLP1proteolipid protein 1 | Always | In 2 conditions |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| RNF220ring finger protein 220 | Always | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Always | In 2 conditions |
| SPARTspartin | Always | In 1 condition |
| TFGtrafficking from ER to golgi regulator | Always | In 2 conditions |
| VCPvalosin containing protein | Always | In 1 condition |
| WASHC5WASH complex subunit 5 | Always | In 1 condition |
| WDR45BWD repeat domain 45B | Always | In 1 condition |
| CAPN1calpain 1 | Very often (80–99%) | In 1 condition |
| CCT5chaperonin containing TCP1 subunit 5 | Very often (80–99%) | In 2 conditions |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Very often (80–99%) | In 2 conditions |
| FA2Hfatty acid 2-hydroxylase | Very often (80–99%) | In 2 conditions |
| L1CAML1 cell adhesion molecule | Very often (80–99%) | In 4 conditions |
Show 70 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MAGmyelin associated glycoprotein | Very often (80–99%) | In 1 condition |
| NIPA1NIPA magnesium transporter 1 | Very often (80–99%) | In 2 conditions |
| USP8ubiquitin specific peptidase 8 | Very often (80–99%) | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Often (30–79%) | In 1 condition |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Often (30–79%) | In 1 condition |
| DDHD1DDHD domain containing 1 | Often (30–79%) | In 1 condition |
| GPT2glutamic--pyruvic transaminase 2 | Often (30–79%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Often (30–79%) | In 3 conditions |
| RPS6KC1ribosomal protein S6 kinase C1 | Often (30–79%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 3 conditions |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Often (30–79%) | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Often (30–79%) | In 2 conditions |
| WDR48WD repeat domain 48 | Often (30–79%) | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | Often (30–79%) | In 2 conditions |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Sometimes (5–29%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Sometimes (5–29%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Sometimes (5–29%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Sometimes (5–29%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sometimes (5–29%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Sometimes (5–29%) | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sometimes (5–29%) | In 2 conditions |
| PAX3paired box 3 | Sometimes (5–29%) | In 2 conditions |
| RNASEH2Bribonuclease H2 subunit B | Sometimes (5–29%) | In 1 condition |
| SETXsenataxin | Sometimes (5–29%) | In 1 condition |
| DNM1Ldynamin 1L | Rarely (1–4%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Rarely (1–4%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Not recorded | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Not recorded | In 1 condition |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Not recorded | In 1 condition |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Not recorded | In 1 condition |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Not recorded | In 1 condition |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Not recorded | In 1 condition |
| ATL1atlastin GTPase 1 | Not recorded | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Not recorded | In 2 conditions |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Not recorded | In 1 condition |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Not recorded | In 1 condition |
| C19orf12chromosome 19 open reading frame 12 | Not recorded | In 1 condition |
| ERLIN2ER lipid raft associated 2 | Not recorded | In 1 condition |
| GANgigaxonin | Not recorded | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Not recorded | In 1 condition |
| KIF1Akinesin family member 1A | Not recorded | In 1 condition |
| KIF5Akinesin family member 5A | Not recorded | In 1 condition |
| KLC2kinesin light chain 2 | Not recorded | In 1 condition |
| LAMB1laminin subunit beta 1 | Not recorded | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Not recorded | In 1 condition |
| REEP1receptor accessory protein 1 | Not recorded | In 1 condition |
| REEP2receptor accessory protein 2 | Not recorded | In 1 condition |
| RNF170ring finger protein 170 | Not recorded | In 1 condition |
| RTN2reticulon 2 | Not recorded | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Not recorded | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Not recorded | In 1 condition |
| SPASTspastin | Not recorded | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Not recorded | In 1 condition |
| SPG21SPG21 abhydrolase domain containing, maspardin | Not recorded | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Not recorded | In 1 condition |
| STXBP1syntaxin binding protein 1 | Not recorded | In 1 condition |
| TECPR2tectonin beta-propeller repeat containing 2 | Not recorded | In 1 condition |
| TOE1target of EGR1, exonuclease | Not recorded | In 1 condition |
| UBAP1ubiquitin associated protein 1 | Not recorded | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Not recorded | In 1 condition |
| VPS37AVPS37A subunit of ESCRT-I | 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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