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Træk
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Resumé
- Også kaldet
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Kropssystem
- Abnormality of the nervous system
Abnormal pyramidal signHP:0007256
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Bestil min Genome Test213 gener knyttet til Abnormal pyramidal sign
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal pyramidal sign ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Altid | I 1 tilstand |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ASPAaspartoacylase | Altid | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Altid | I 2 tilstande |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| FBXO7F-box protein 7 | Altid | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Altid | I 2 tilstande |
| HTThuntingtin | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Altid | I 2 tilstande |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altid | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Altid | I 2 tilstande |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 1 tilstand |
| RTTNrotatin | Altid | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Altid | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Altid | I 2 tilstande |
| SNCAsynuclein alpha | Altid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Altid | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Altid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Meget ofte (80–99 %) | I 3 tilstande |
| ATXN3ataxin 3 | Meget ofte (80–99 %) | I 3 tilstande |
| ERLIN2ER lipid raft associated 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Meget ofte (80–99 %) | I 2 tilstande |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MAPTmicrotubule associated protein tau | Meget ofte (80–99 %) | I 3 tilstande |
| NAGAalpha-N-acetylgalactosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX7peroxisomal biogenesis factor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Meget ofte (80–99 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 173 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Meget ofte (80–99 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Meget ofte (80–99 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| VPS13Dvacuolar protein sorting 13 homolog D | Meget ofte (80–99 %) | I 2 tilstande |
| VPS41VPS41 subunit of HOPS complex | Meget 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 tilstande |
| 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 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstande |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 1 tilstand |
| SETXsenataxin | Ofte (30–79 %) | I 3 tilstande |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 4 tilstande |
| SLC6A3solute carrier family 6 member 3 | Ofte (30–79 %) | I 2 tilstande |
| SNORD118small nucleolar RNA, C/D box 118 | Ofte (30–79 %) | I 2 tilstande |
| 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 tilstande |
| 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 | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CCR1C-C motif chemokine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Nogle gange (5–29 %) | I 2 tilstande |
| CTDP1CTD phosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Nogle gange (5–29 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF1Ckinesin family member 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Nogle gange (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Nogle gange (5–29 %) | I 3 tilstande |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 2 tilstande |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 2 tilstande |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Nogle gange (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SQSTM1sequestosome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 2 tilstande |
| SLC6A1solute carrier family 6 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| ATXN10ataxin 10 | Ikke registreret | I 1 tilstand |
| ATXN8ataxin 8 | Ikke registreret | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registreret | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registreret | I 1 tilstand |
| GANgigaxonin | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Ikke registreret | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ikke registreret | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ikke registreret | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registreret | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ikke registreret | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Ikke registreret | I 1 tilstand |
| VWA3Bvon Willebrand factor A domain containing 3B | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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