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Požymis
Spastic paraparesis
Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.
Santrauka
Spastic paraparesisHP:0002313
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Read the genes linked to Spastic paraparesis, and the rest of your genome, with one test.
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Įsigyti savo Genome Test89 genų susiję su Spastic paraparesis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Spastic paraparesis. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 3 ligose |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Visada | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Visada | 2 ligose |
| FAR1fatty acyl-CoA reductase 1 | Visada | 1 ligoje |
| GJC2gap junction protein gamma 2 | Visada | 1 ligoje |
| HMBShydroxymethylbilane synthase | Visada | 1 ligoje |
| MAGmyelin associated glycoprotein | Visada | 1 ligoje |
| COASYCoenzyme A synthase | Labai dažnai (80–99%) | 2 ligose |
| MTPAPmitochondrial poly(A) polymerase | Labai dažnai (80–99%) | 2 ligose |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Dažnai (30–79%) | 2 ligose |
| GALCgalactosylceramidase | Dažnai (30–79%) | 1 ligoje |
| GFAPglial fibrillary acidic protein | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 1 ligoje |
| GOT2glutamic-oxaloacetic transaminase 2 | Dažnai (30–79%) | 1 ligoje |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Dažnai (30–79%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Dažnai (30–79%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 2 ligose |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| POLR3GLRNA polymerase III subunit GL | Dažnai (30–79%) | 1 ligoje |
| SPARTspartin | Dažnai (30–79%) | 2 ligose |
| WDR45WD repeat domain 45 | Dažnai (30–79%) | 2 ligose |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| ANGangiogenin | Kartais (5–29%) | 1 ligoje |
| ANXA11annexin A11 | Kartais (5–29%) | 1 ligoje |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Kartais (5–29%) | 1 ligoje |
| ATXN2ataxin 2 | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BTDbiotinidase | Kartais (5–29%) | 1 ligoje |
| CCNFcyclin F | Kartais (5–29%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Kartais (5–29%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Kartais (5–29%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Kartais (5–29%) | 1 ligoje |
| DAOD-amino acid oxidase | Kartais (5–29%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Kartais (5–29%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| FUSFUS RNA binding protein | Kartais (5–29%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Kartais (5–29%) | 1 ligoje |
Rodyti dar 49 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GLT8D1glycosyltransferase 8 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Kartais (5–29%) | 1 ligoje |
| IDUAalpha-L-iduronidase | Kartais (5–29%) | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Kartais (5–29%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Kartais (5–29%) | 1 ligoje |
| MATR3matrin 3 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| NEFHneurofilament heavy chain | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| OPTNoptineurin | Kartais (5–29%) | 1 ligoje |
| PFN1profilin 1 | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| PNPpurine nucleoside phosphorylase | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PRPHperipherin | Kartais (5–29%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Kartais (5–29%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Kartais (5–29%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kartais (5–29%) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Kartais (5–29%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Kartais (5–29%) | 2 ligose |
| SOD1superoxide dismutase 1 | Kartais (5–29%) | 1 ligoje |
| SQSTM1sequestosome 1 | Kartais (5–29%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Kartais (5–29%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TTRtransthyretin | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Kartais (5–29%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Retai (1–4 %) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Retai (1–4 %) | 1 ligoje |
| ARG1arginase 1 | Neužfiksuota | 1 ligoje |
| EDNRBendothelin receptor type B | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Neužfiksuota | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Neužfiksuota | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Neužfiksuota | 1 ligoje |
| SPG21SPG21 abhydrolase domain containing, maspardin | Neužfiksuota | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Neužfiksuota | 1 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.
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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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