Egenskap
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Sammendrag
- Også kalt
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Få mitt Genome Test213 gener knyttet til Abnormal pyramidal sign
Endringer i disse genene forårsaker sjeldne tilstander der Abnormal pyramidal sign forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Alltid | I 1 tilstand |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Alltid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ASPAaspartoacylase | Alltid | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Alltid | I 2 tilstander |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tilstand |
| FBXO7F-box protein 7 | Alltid | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Alltid | I 2 tilstander |
| HTThuntingtin | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Alltid | I 2 tilstander |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alltid | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Alltid | I 2 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Alltid | I 1 tilstand |
| RTTNrotatin | Alltid | I 2 tilstander |
| SLC19A3solute carrier family 19 member 3 | Alltid | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Alltid | I 2 tilstander |
| SNCAsynuclein alpha | Alltid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Alltid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Svært ofte (80–99 %) | I 3 tilstander |
| ATXN3ataxin 3 | Svært ofte (80–99 %) | I 3 tilstander |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Svært ofte (80–99 %) | I 2 tilstander |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MAPTmicrotubule associated protein tau | Svært ofte (80–99 %) | I 3 tilstander |
| NAGAalpha-N-acetylgalactosaminidase | Svært ofte (80–99 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX7peroxisomal biogenesis factor 7 | Svært ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SOX10SRY-box transcription factor 10 | Svært ofte (80–99 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Svært ofte (80–99 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 173 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Svært ofte (80–99 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Svært ofte (80–99 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Svært ofte (80–99 %) | I 2 tilstander |
| VPS13Dvacuolar protein sorting 13 homolog D | Svært ofte (80–99 %) | I 2 tilstander |
| VPS41VPS41 subunit of HOPS complex | Svært ofte (80–99 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Ofte (30–79 %) | I 1 tilstand |
| ADD3adducin 3 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstander |
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 2 tilstander |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstander |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 2 tilstander |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Ofte (30–79 %) | I 2 tilstander |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ofte (30–79 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 2 tilstander |
| LIG3DNA ligase 3 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 3 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstander |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstander |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstander |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 1 tilstand |
| SETXsenataxin | Ofte (30–79 %) | I 3 tilstander |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 4 tilstander |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SNORD118small nucleolar RNA, C/D box 118 | Ofte (30–79 %) | I 2 tilstander |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 2 tilstander |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Noen ganger (5–29 %) | I 2 tilstander |
| CTDP1CTD phosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Noen ganger (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF1Ckinesin family member 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Noen ganger (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Noen ganger (5–29 %) | I 3 tilstander |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 2 tilstander |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Noen ganger (5–29 %) | I 2 tilstander |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SQSTM1sequestosome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjelden (1–4%) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Sjelden (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjelden (1–4%) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 2 tilstander |
| SLC6A1solute carrier family 6 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| ATXN10ataxin 10 | Ikke registrert | I 1 tilstand |
| ATXN8ataxin 8 | Ikke registrert | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registrert | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registrert | I 1 tilstand |
| GANgigaxonin | Ikke registrert | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registrert | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Ikke registrert | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ikke registrert | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ikke registrert | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registrert | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ikke registrert | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ikke registrert | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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