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Kenmerk
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Samenvatting
- Ook bekend als
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Lichaamssysteem
- Abnormality of the nervous system
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-pyramidal-sign.json"
page <- fromJSON(url)
page$trait$nameAbnormal pyramidal signHP:0007256
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Lees de genen die aan Abnormal pyramidal sign gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen213 genen gekoppeld aan Abnormal pyramidal sign
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormal pyramidal sign voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Altijd | In 1 aandoening |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Altijd | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altijd | In 1 aandoening |
| ASPAaspartoacylase | Altijd | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Altijd | In 2 aandoeningen |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| FBXO7F-box protein 7 | Altijd | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Altijd | In 2 aandoeningen |
| HTThuntingtin | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Altijd | In 2 aandoeningen |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altijd | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Altijd | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Altijd | In 1 aandoening |
| POLR3BRNA polymerase III subunit B | Altijd | In 1 aandoening |
| RTTNrotatin | Altijd | In 2 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Altijd | In 1 aandoening |
| SLC25A15solute carrier family 25 member 15 | Altijd | In 2 aandoeningen |
| SNCAsynuclein alpha | Altijd | In 1 aandoening |
| SOD1superoxide dismutase 1 | Altijd | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Altijd | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Heel vaak (80–99%) | In 3 aandoeningen |
| ATXN3ataxin 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| ERLIN2ER lipid raft associated 2 | Heel vaak (80–99%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Heel vaak (80–99%) | In 1 aandoening |
| GM2Aganglioside GM2 activator | Heel vaak (80–99%) | In 2 aandoeningen |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAPTmicrotubule associated protein tau | Heel vaak (80–99%) | In 3 aandoeningen |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX7peroxisomal biogenesis factor 7 | Heel vaak (80–99%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Heel vaak (80–99%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| SPG21SPG21 abhydrolase domain containing, maspardin | Heel vaak (80–99%) | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 173 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Heel vaak (80–99%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Heel vaak (80–99%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS13Dvacuolar protein sorting 13 homolog D | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS41VPS41 subunit of HOPS complex | Heel vaak (80–99%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Vaak (30–79%) | In 1 aandoening |
| ADD3adducin 3 | Vaak (30–79%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Vaak (30–79%) | In 2 aandoeningen |
| C19orf12chromosome 19 open reading frame 12 | Vaak (30–79%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Vaak (30–79%) | In 2 aandoeningen |
| ETHE1ETHE1 persulfide dioxygenase | Vaak (30–79%) | In 1 aandoening |
| FKRPfukutin related protein | Vaak (30–79%) | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| GFAPglial fibrillary acidic protein | Vaak (30–79%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 1 aandoening |
| HSPD1heat shock protein family D (Hsp60) member 1 | Vaak (30–79%) | In 1 aandoening |
| IDUAalpha-L-iduronidase | Vaak (30–79%) | In 2 aandoeningen |
| LIG3DNA ligase 3 | Vaak (30–79%) | In 1 aandoening |
| LMNB1lamin B1 | Vaak (30–79%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Vaak (30–79%) | In 3 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 2 aandoeningen |
| PODXLpodocalyxin like | Vaak (30–79%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Vaak (30–79%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Vaak (30–79%) | In 2 aandoeningen |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 2 aandoeningen |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 1 aandoening |
| SETXsenataxin | Vaak (30–79%) | In 3 aandoeningen |
| SLC16A2solute carrier family 16 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 4 aandoeningen |
| SLC6A3solute carrier family 6 member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SNORD118small nucleolar RNA, C/D box 118 | Vaak (30–79%) | In 2 aandoeningen |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Vaak (30–79%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| TAF2TATA-box binding protein associated factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TBPTATA-box binding protein | Vaak (30–79%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Vaak (30–79%) | In 1 aandoening |
| TTRtransthyretin | Vaak (30–79%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 1 aandoening |
| VPS13Cvacuolar protein sorting 13 homolog C | Vaak (30–79%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Soms (5–29%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 2 aandoeningen |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CD4CD4 molecule | Soms (5–29%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Soms (5–29%) | In 1 aandoening |
| CMPK2cytidine/uridine monophosphate kinase 2 | Soms (5–29%) | In 1 aandoening |
| COQ8Acoenzyme Q8A | Soms (5–29%) | In 2 aandoeningen |
| CTDP1CTD phosphatase 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DPYSdihydropyrimidinase | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Soms (5–29%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Soms (5–29%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Soms (5–29%) | In 2 aandoeningen |
| KIF1Ckinesin family member 1C | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MLH1mutL homolog 1 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MSH2mutS homolog 2 | Soms (5–29%) | In 1 aandoening |
| MSH6mutS homolog 6 | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Soms (5–29%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Soms (5–29%) | In 1 aandoening |
| MYORGmyogenesis regulating glycosidase | Soms (5–29%) | In 3 aandoeningen |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Soms (5–29%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 2 aandoeningen |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 2 aandoeningen |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 2 aandoeningen |
| RNASEH2Aribonuclease H2 subunit A | Soms (5–29%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Soms (5–29%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RORARAR related orphan receptor A | Soms (5–29%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| RRP12ribosomal RNA processing 12 homolog | Soms (5–29%) | In 1 aandoening |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Soms (5–29%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC20A2solute carrier family 20 member 2 | Soms (5–29%) | In 2 aandoeningen |
| SQSTM1sequestosome 1 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| THAP11THAP domain containing 11 | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Soms (5–29%) | In 2 aandoeningen |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Zelden (1–4%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Zelden (1–4%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Zelden (1–4%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 2 aandoeningen |
| SLC6A1solute carrier family 6 member 1 | Zelden (1–4%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zelden (1–4%) | In 1 aandoening |
| TTBK2tau tubulin kinase 2 | Zelden (1–4%) | In 1 aandoening |
| ATXN10ataxin 10 | Niet vastgelegd | In 1 aandoening |
| ATXN8ataxin 8 | Niet vastgelegd | In 1 aandoening |
| ATXN8OSATXN8 opposite strand lncRNA | Niet vastgelegd | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Niet vastgelegd | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Niet vastgelegd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Niet vastgelegd | In 1 aandoening |
| GANgigaxonin | Niet vastgelegd | In 1 aandoening |
| GLRX5glutaredoxin 5 | Niet vastgelegd | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Niet vastgelegd | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Niet vastgelegd | In 1 aandoening |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Niet vastgelegd | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Niet vastgelegd | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Niet vastgelegd | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Niet vastgelegd | In 1 aandoening |
| VWA3Bvon Willebrand factor A domain containing 3B | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.17-8666dff2.
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InloggenVraagLaat uw genoom in kaart brengen↗
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Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken