Požymis
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Santrauka
- Taip pat vadinama
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Abnormal pyramidal sign, and the rest of your genome, with one test.
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Įsigyti savo Genome Test213 genų susiję su Abnormal pyramidal sign
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal pyramidal sign. 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Visada | 1 ligoje |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Visada | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| ASPAaspartoacylase | Visada | 1 ligoje |
| BCAP31B cell receptor associated protein 31 | Visada | 2 ligose |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CHP1calcineurin like EF-hand protein 1 | Visada | 1 ligoje |
| FBXO7F-box protein 7 | Visada | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Visada | 2 ligose |
| HTThuntingtin | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MAGmyelin associated glycoprotein | Visada | 2 ligose |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Visada | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Visada | 2 ligose |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Visada | 1 ligoje |
| RTTNrotatin | Visada | 2 ligose |
| SLC19A3solute carrier family 19 member 3 | Visada | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Visada | 2 ligose |
| SNCAsynuclein alpha | Visada | 1 ligoje |
| SOD1superoxide dismutase 1 | Visada | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Visada | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Labai dažnai (80–99%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Labai dažnai (80–99%) | 3 ligose |
| ATXN3ataxin 3 | Labai dažnai (80–99%) | 3 ligose |
| ERLIN2ER lipid raft associated 2 | Labai dažnai (80–99%) | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Labai dažnai (80–99%) | 1 ligoje |
| GM2Aganglioside GM2 activator | Labai dažnai (80–99%) | 2 ligose |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| MAPTmicrotubule associated protein tau | Labai dažnai (80–99%) | 3 ligose |
| NAGAalpha-N-acetylgalactosaminidase | Labai dažnai (80–99%) | 1 ligoje |
| PANK2pantothenate kinase 2 | Labai dažnai (80–99%) | 2 ligose |
| PEX7peroxisomal biogenesis factor 7 | Labai dažnai (80–99%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SOX10SRY-box transcription factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| SPG21SPG21 abhydrolase domain containing, maspardin | Labai dažnai (80–99%) | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 173 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Labai dažnai (80–99%) | 1 ligoje |
| TTPAalpha tocopherol transfer protein | Labai dažnai (80–99%) | 1 ligoje |
| UBTFupstream binding transcription factor | Labai dažnai (80–99%) | 2 ligose |
| VPS13Dvacuolar protein sorting 13 homolog D | Labai dažnai (80–99%) | 2 ligose |
| VPS41VPS41 subunit of HOPS complex | Labai dažnai (80–99%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Dažnai (30–79%) | 1 ligoje |
| ADD3adducin 3 | Dažnai (30–79%) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Dažnai (30–79%) | 2 ligose |
| C19orf12chromosome 19 open reading frame 12 | Dažnai (30–79%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 1 ligoje |
| COA8cytochrome c oxidase assembly factor 8 | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 2 ligose |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 2 ligose |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Dažnai (30–79%) | 2 ligose |
| ETHE1ETHE1 persulfide dioxygenase | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Dažnai (30–79%) | 2 ligose |
| GFAPglial fibrillary acidic protein | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Dažnai (30–79%) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Dažnai (30–79%) | 1 ligoje |
| IDUAalpha-L-iduronidase | Dažnai (30–79%) | 2 ligose |
| LIG3DNA ligase 3 | Dažnai (30–79%) | 1 ligoje |
| LMNB1lamin B1 | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Dažnai (30–79%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Dažnai (30–79%) | 3 ligose |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Dažnai (30–79%) | 2 ligose |
| PODXLpodocalyxin like | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Dažnai (30–79%) | 2 ligose |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 2 ligose |
| SACSsacsin molecular chaperone | Dažnai (30–79%) | 1 ligoje |
| SETXsenataxin | Dažnai (30–79%) | 3 ligose |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 4 ligose |
| SLC6A3solute carrier family 6 member 3 | Dažnai (30–79%) | 2 ligose |
| SNORD118small nucleolar RNA, C/D box 118 | Dažnai (30–79%) | 2 ligose |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Dažnai (30–79%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Dažnai (30–79%) | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Dažnai (30–79%) | 2 ligose |
| TBPTATA-box binding protein | Dažnai (30–79%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Dažnai (30–79%) | 1 ligoje |
| TTRtransthyretin | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Dažnai (30–79%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| ATMATM serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| C4Acomplement C4A (Chido/Rodgers blood group) | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 2 ligose |
| CCR1C-C motif chemokine receptor 1 | Kartais (5–29%) | 1 ligoje |
| CD4CD4 molecule | Kartais (5–29%) | 1 ligoje |
| CHEK2checkpoint kinase 2 | Kartais (5–29%) | 1 ligoje |
| CMPK2cytidine/uridine monophosphate kinase 2 | Kartais (5–29%) | 1 ligoje |
| COQ8Acoenzyme Q8A | Kartais (5–29%) | 2 ligose |
| CTDP1CTD phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DPYSdihydropyrimidinase | Kartais (5–29%) | 1 ligoje |
| EPCAMepithelial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FASFas cell surface death receptor | Kartais (5–29%) | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| IFNGR1interferon gamma receptor 1 | Kartais (5–29%) | 1 ligoje |
| IL10interleukin 10 | Kartais (5–29%) | 1 ligoje |
| IL12Ainterleukin 12A | Kartais (5–29%) | 1 ligoje |
| IL12A-AS1IL12A antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| IL23Rinterleukin 23 receptor | Kartais (5–29%) | 1 ligoje |
| IRF4interferon regulatory factor 4 | Kartais (5–29%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Kartais (5–29%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Kartais (5–29%) | 2 ligose |
| KIF1Ckinesin family member 1C | Kartais (5–29%) | 1 ligoje |
| KLRC4killer cell lectin like receptor C4 | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Kartais (5–29%) | 1 ligoje |
| MEFVMEFV innate immunity regulator, pyrin | Kartais (5–29%) | 1 ligoje |
| MLH1mutL homolog 1 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MSH2mutS homolog 2 | Kartais (5–29%) | 1 ligoje |
| MSH6mutS homolog 6 | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Kartais (5–29%) | 1 ligoje |
| MUTYHmutY DNA glycosylase | Kartais (5–29%) | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Kartais (5–29%) | 3 ligose |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| NPATnuclear protein, coactivator of histone transcription | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 2 ligose |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Kartais (5–29%) | 1 ligoje |
| PMS1PMS1 homolog 1, mismatch repair system component | Kartais (5–29%) | 1 ligoje |
| PMS2PMS1 homolog 2, mismatch repair system component | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 2 ligose |
| 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 |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RORARAR related orphan receptor A | Kartais (5–29%) | 1 ligoje |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Kartais (5–29%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Kartais (5–29%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Kartais (5–29%) | 2 ligose |
| SQSTM1sequestosome 1 | Kartais (5–29%) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Kartais (5–29%) | 1 ligoje |
| THAP11THAP domain containing 11 | Kartais (5–29%) | 1 ligoje |
| TLR4toll like receptor 4 | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 1 ligoje |
| UBAC2UBA domain containing 2 | Kartais (5–29%) | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Kartais (5–29%) | 2 ligose |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Retai (1–4 %) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Retai (1–4 %) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 2 ligose |
| SLC6A1solute carrier family 6 member 1 | Retai (1–4 %) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Retai (1–4 %) | 1 ligoje |
| TTBK2tau tubulin kinase 2 | Retai (1–4 %) | 1 ligoje |
| ATXN10ataxin 10 | Neužfiksuota | 1 ligoje |
| ATXN8ataxin 8 | Neužfiksuota | 1 ligoje |
| ATXN8OSATXN8 opposite strand lncRNA | Neužfiksuota | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Neužfiksuota | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Neužfiksuota | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Neužfiksuota | 1 ligoje |
| GANgigaxonin | Neužfiksuota | 1 ligoje |
| GLRX5glutaredoxin 5 | Neužfiksuota | 1 ligoje |
| GRM1glutamate metabotropic receptor 1 | Neužfiksuota | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Neužfiksuota | 1 ligoje |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| NALCNsodium leak channel, non-selective | Neužfiksuota | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Neužfiksuota | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Neužfiksuota | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Neužfiksuota | 1 ligoje |
| VWA3Bvon Willebrand factor A domain containing 3B | 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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- 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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