Požymis
Wide based walk
Klinikinis pavadinimas: Broad-based gait
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Santrauka
- Taip pat vadinama
- Broad based gait, Wide based gait, Wide-based gait
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test128 genų susiję su Wide based walk
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Wide based walk. 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| ASPNATaspartate N-acetyltransferase | Visada | 1 ligoje |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Visada | 1 ligoje |
| CTSAcathepsin A | Visada | 1 ligoje |
| CWF19L1CWF19 like cell cycle control factor 1 | Visada | 1 ligoje |
| EBF3EBF transcription factor 3 | Visada | 1 ligoje |
| EGR2early growth response 2 | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 2 ligose |
| MAP1Bmicrotubule associated protein 1B | Visada | 1 ligoje |
| MPZmyelin protein zero | Visada | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Visada | 1 ligoje |
| PLP1proteolipid protein 1 | Visada | 1 ligoje |
| PMP22peripheral myelin protein 22 | Visada | 1 ligoje |
| PRDM13PR/SET domain 13 | Visada | 1 ligoje |
| PRXperiaxin | Visada | 2 ligose |
| RAB11BRAB11B, member RAS oncogene family | Visada | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Visada | 1 ligoje |
| RNF113Aring finger protein 113A | Visada | 1 ligoje |
| RNU12RNA, U12 small nuclear | Visada | 2 ligose |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 1 ligoje |
| SPTBN2spectrin beta, non-erythrocytic 2 | Visada | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Visada | 1 ligoje |
| UROC1urocanate hydratase 1 | Visada | 2 ligose |
| UBE3Aubiquitin protein ligase E3A | Labai dažnai (80–99%) | 5 ligose |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 2 ligose |
| ATCAYATCAY kinesin light chain interacting caytaxin | Dažnai (30–79%) | 2 ligose |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Dažnai (30–79%) | 2 ligose |
| CERT1ceramide transporter 1 | Dažnai (30–79%) | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 88 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CUL4Bcullin 4B | Dažnai (30–79%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Dažnai (30–79%) | 2 ligose |
| DEAF1DEAF1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FNIP1folliculin interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| GPT2glutamic--pyruvic transaminase 2 | Dažnai (30–79%) | 1 ligoje |
| HTThuntingtin | Dažnai (30–79%) | 1 ligoje |
| MAB21L1mab-21 like 1 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Dažnai (30–79%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| SGCBsarcoglycan beta | Dažnai (30–79%) | 1 ligoje |
| SGCGsarcoglycan gamma | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 1 ligoje |
| SNX14sorting nexin 14 | Dažnai (30–79%) | 1 ligoje |
| TMEM222transmembrane protein 222 | Dažnai (30–79%) | 1 ligoje |
| TPP1tripeptidyl peptidase 1 | Dažnai (30–79%) | 1 ligoje |
| TPRtranslocated promoter region, nuclear basket protein | Dažnai (30–79%) | 1 ligoje |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Dažnai (30–79%) | 1 ligoje |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| WDR81WD repeat domain 81 | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ATP10AATPase phospholipid transporting 10A (putative) | Kartais (5–29%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BCORL1BCL6 corepressor like 1 | Kartais (5–29%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Kartais (5–29%) | 1 ligoje |
| CHD3chromodomain helicase DNA binding protein 3 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| KCND3potassium voltage-gated channel subfamily D member 3 | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| NBEAneurobeachin | Kartais (5–29%) | 1 ligoje |
| NRXN1neurexin 1 | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 2 ligose |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 2 ligose |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 2 ligose |
| GALCgalactosylceramidase | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Neužfiksuota | 1 ligoje |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Neužfiksuota | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Neužfiksuota | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Neužfiksuota | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| SMSspermine synthase | Neužfiksuota | 1 ligoje |
| TBC1D23TBC1 domain family member 23 | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 1 ligoje |
| THRAthyroid hormone receptor alpha | Neužfiksuota | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Neužfiksuota | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Neužfiksuota | 1 ligoje |
| TRIM2tripartite motif containing 2 | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Neužfiksuota | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Neužfiksuota | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
Platesni požymiai
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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