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Požymis

Spastic paraplegia

Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.

HPO HP:0001258

Santrauka

Taip pat vadinama
Spastic paraplegia, lower limb
Kūno sistema
Abnormality of the musculoskeletal systemAbnormality of the nervous system

110 genų susiję su Spastic paraplegia

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Spastic paraplegia. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ABHD16Aabhydrolase domain containing 16A, phospholipaseVisada1 ligoje
ALDH18A1aldehyde dehydrogenase 18 family member A1Visada2 ligose
ALS2alsin Rho guanine nucleotide exchange factor ALS2Visada2 ligose
AMFRautocrine motility factor receptorVisada1 ligoje
AP5Z1adaptor related protein complex 5 subunit zeta 1Visada1 ligoje
BSCL2BSCL2 lipid droplet biogenesis associated, seipinVisada1 ligoje
CPT1Ccarnitine palmitoyltransferase 1CVisada1 ligoje
DDHD2DDHD domain containing 2Visada2 ligose
DSTYKdual serine/threonine and tyrosine protein kinaseVisada2 ligose
ELOVL1ELOVL fatty acid elongase 1Visada1 ligoje
ENTPD1ectonucleoside triphosphate diphosphohydrolase 1Visada1 ligoje
FARS2phenylalanyl-tRNA synthetase 2, mitochondrialVisada1 ligoje
FLVCR1FLVCR choline and heme transporter 1Visada1 ligoje
GBA2glucosylceramidase beta 2Visada1 ligoje
GBE11,4-alpha-glucan branching enzyme 1Visada1 ligoje
GJC2gap junction protein gamma 2Visada1 ligoje
HPDL4-hydroxyphenylpyruvate dioxygenase likeVisada2 ligose
HSPD1heat shock protein family D (Hsp60) member 1Visada3 ligose
INTS8integrator complex subunit 8Visada1 ligoje
KIDINS220kinase D interacting substrate 220Visada1 ligoje
MECP2methyl-CpG binding protein 2Visada1 ligoje
MTRFRmitochondrial translation release factor in rescueVisada1 ligoje
NFU1NFU1 iron-sulfur cluster scaffoldVisada1 ligoje
NT5C25'-nucleotidase, cytosolic IIVisada2 ligose
PEX3peroxisomal biogenesis factor 3Visada1 ligoje
PI4KAphosphatidylinositol 4-kinase alphaVisada1 ligoje
PLP1proteolipid protein 1Visada2 ligose
RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1Visada1 ligoje
RNF220ring finger protein 220Visada1 ligoje
SLC25A15solute carrier family 25 member 15Visada2 ligose
SPARTspartinVisada1 ligoje
TFGtrafficking from ER to golgi regulatorVisada2 ligose
VCPvalosin containing proteinVisada1 ligoje
WASHC5WASH complex subunit 5Visada1 ligoje
WDR45BWD repeat domain 45BVisada1 ligoje
CAPN1calpain 1Labai dažnai (80–99%)1 ligoje
CCT5chaperonin containing TCP1 subunit 5Labai dažnai (80–99%)2 ligose
CYP7B1cytochrome P450 family 7 subfamily B member 1Labai dažnai (80–99%)2 ligose
FA2Hfatty acid 2-hydroxylaseLabai dažnai (80–99%)2 ligose
L1CAML1 cell adhesion moleculeLabai dažnai (80–99%)4 ligose
Rodyti dar 70 genų
GenasKaip dažnai pasireiškiaLigos
MAGmyelin associated glycoproteinLabai dažnai (80–99%)1 ligoje
NIPA1NIPA magnesium transporter 1Labai dažnai (80–99%)2 ligose
USP8ubiquitin specific peptidase 8Labai dažnai (80–99%)1 ligoje
AIFM1apoptosis inducing factor mitochondria associated 1Dažnai (30–79%)1 ligoje
CACNA1Dcalcium voltage-gated channel subunit alpha1 DDažnai (30–79%)1 ligoje
DDHD1DDHD domain containing 1Dažnai (30–79%)1 ligoje
GPT2glutamic--pyruvic transaminase 2Dažnai (30–79%)1 ligoje
PNPLA6patatin like domain 6, lysophospholipaseDažnai (30–79%)3 ligose
RPS6KC1ribosomal protein S6 kinase C1Dažnai (30–79%)1 ligoje
SLC2A1solute carrier family 2 member 1Dažnai (30–79%)3 ligose
SPTAN1spectrin alpha, non-erythrocytic 1Dažnai (30–79%)1 ligoje
VAMP1vesicle associated membrane protein 1Dažnai (30–79%)2 ligose
WDR48WD repeat domain 48Dažnai (30–79%)1 ligoje
ZFYVE26zinc finger FYVE-type containing 26Dažnai (30–79%)2 ligose
ALDH3A2aldehyde dehydrogenase 3 family member A2Kartais (5–29%)1 ligoje
ASCC3activating signal cointegrator 1 complex subunit 3Kartais (5–29%)1 ligoje
ATP5F1AATP synthase F1 subunit alphaKartais (5–29%)1 ligoje
ATP5F1DATP synthase F1 subunit deltaKartais (5–29%)1 ligoje
ATP5F1EATP synthase F1 subunit epsilonKartais (5–29%)1 ligoje
ATP5MKATP synthase membrane subunit kKartais (5–29%)1 ligoje
ATP5POATP synthase peripheral stalk subunit OSCPKartais (5–29%)1 ligoje
ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2Kartais (5–29%)1 ligoje
ATRXATRX chromatin remodelerKartais (5–29%)1 ligoje
CYP2U1cytochrome P450 family 2 subfamily U member 1Kartais (5–29%)2 ligose
GBA1glucosylceramidase beta 1Kartais (5–29%)1 ligoje
LYSTlysosomal trafficking regulatorKartais (5–29%)1 ligoje
MAN2B1mannosidase alpha class 2B member 1Kartais (5–29%)1 ligoje
MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6Kartais (5–29%)1 ligoje
MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8Kartais (5–29%)1 ligoje
OPA1OPA1 mitochondrial dynamin like GTPaseKartais (5–29%)2 ligose
PAX3paired box 3Kartais (5–29%)2 ligose
RNASEH2Bribonuclease H2 subunit BKartais (5–29%)1 ligoje
SETXsenataxinKartais (5–29%)1 ligoje
DNM1Ldynamin 1LRetai (1–4 %)1 ligoje
PPIBpeptidylprolyl isomerase BRetai (1–4 %)1 ligoje
ABCD1ATP binding cassette subfamily D member 1Neužfiksuota1 ligoje
AMPD2adenosine monophosphate deaminase 2Neužfiksuota1 ligoje
AP4B1adaptor related protein complex 4 subunit beta 1Neužfiksuota1 ligoje
AP4E1adaptor related protein complex 4 subunit epsilon 1Neužfiksuota1 ligoje
AP4S1adaptor related protein complex 4 subunit sigma 1Neužfiksuota1 ligoje
ARL6IP1ARL6 interacting reticulophagy regulator 1Neužfiksuota1 ligoje
ATL1atlastin GTPase 1Neužfiksuota1 ligoje
ATP13A2ATPase cation transporting 13A2Neužfiksuota2 ligose
ATP5MC3ATP synthase membrane subunit c locus 3Neužfiksuota1 ligoje
B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1Neužfiksuota1 ligoje
C19orf12chromosome 19 open reading frame 12Neužfiksuota1 ligoje
ERLIN2ER lipid raft associated 2Neužfiksuota1 ligoje
GANgigaxoninNeužfiksuota1 ligoje
IBA57iron-sulfur cluster assembly factor IBA57Neužfiksuota1 ligoje
KIF1Akinesin family member 1ANeužfiksuota1 ligoje
KIF5Akinesin family member 5ANeužfiksuota1 ligoje
KLC2kinesin light chain 2Neužfiksuota1 ligoje
LAMB1laminin subunit beta 1Neužfiksuota1 ligoje
PDHXpyruvate dehydrogenase complex component XNeužfiksuota1 ligoje
REEP1receptor accessory protein 1Neužfiksuota1 ligoje
REEP2receptor accessory protein 2Neužfiksuota1 ligoje
RNF170ring finger protein 170Neužfiksuota1 ligoje
RTN2reticulon 2Neužfiksuota1 ligoje
SLC16A2solute carrier family 16 member 2Neužfiksuota1 ligoje
SLC33A1solute carrier family 33 member 1Neužfiksuota1 ligoje
SPASTspastinNeužfiksuota1 ligoje
SPG11SPG11 vesicle trafficking associated, spatacsinNeužfiksuota1 ligoje
SPG21SPG21 abhydrolase domain containing, maspardinNeužfiksuota1 ligoje
SPG7SPG7 matrix AAA peptidase subunit, parapleginNeužfiksuota1 ligoje
STXBP1syntaxin binding protein 1Neužfiksuota1 ligoje
TECPR2tectonin beta-propeller repeat containing 2Neužfiksuota1 ligoje
TOE1target of EGR1, exonucleaseNeužfiksuota1 ligoje
UBAP1ubiquitin associated protein 1Neužfiksuota1 ligoje
UCHL1ubiquitin C-terminal hydrolase L1Neužfiksuota1 ligoje
VPS37AVPS37A subunit of ESCRT-INeužfiksuota1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Siauresni požymiai

Platesni požymiai

Leg paralysisLower limb spasticity

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.16-c6eea6bf.

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