Tunnus
Wide based walk
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Broad based gait, Wide based gait, Wide-based gait
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Wide based walk, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test128 geeni on seotud tunnusega Wide based walk
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Wide based walk. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| ASPNATaspartate N-acetyltransferase | Alati | Esineb 1 haiguses |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Alati | Esineb 1 haiguses |
| CTSAcathepsin A | Alati | Esineb 1 haiguses |
| CWF19L1CWF19 like cell cycle control factor 1 | Alati | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Alati | Esineb 1 haiguses |
| EGR2early growth response 2 | Alati | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 2 haiguses |
| MAP1Bmicrotubule associated protein 1B | Alati | Esineb 1 haiguses |
| MPZmyelin protein zero | Alati | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alati | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Alati | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Alati | Esineb 1 haiguses |
| PMP22peripheral myelin protein 22 | Alati | Esineb 1 haiguses |
| PRDM13PR/SET domain 13 | Alati | Esineb 1 haiguses |
| PRXperiaxin | Alati | Esineb 2 haiguses |
| RAB11BRAB11B, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RAB3ARAB3A, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Alati | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Alati | Esineb 2 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alati | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alati | Esineb 1 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Alati | Esineb 1 haiguses |
| UROC1urocanate hydratase 1 | Alati | Esineb 2 haiguses |
| UBE3Aubiquitin protein ligase E3A | Väga sageli (80–99%) | Esineb 5 haiguses |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ATCAYATCAY kinesin light chain interacting caytaxin | Sageli (30–79%) | Esineb 2 haiguses |
| BICD2BICD cargo adaptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Sageli (30–79%) | Esineb 2 haiguses |
| CERT1ceramide transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COPB2coat protein complex I subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 88 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CUL4Bcullin 4B | Sageli (30–79%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Sageli (30–79%) | Esineb 2 haiguses |
| DEAF1DEAF1 transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| DLATdihydrolipoamide S-acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FNIP1folliculin interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GPT2glutamic--pyruvic transaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HTThuntingtin | Sageli (30–79%) | Esineb 1 haiguses |
| MAB21L1mab-21 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 1 haiguses |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Sageli (30–79%) | Esineb 1 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SGCBsarcoglycan beta | Sageli (30–79%) | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM222transmembrane protein 222 | Sageli (30–79%) | Esineb 1 haiguses |
| TPP1tripeptidyl peptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TPRtranslocated promoter region, nuclear basket protein | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Sageli (30–79%) | Esineb 1 haiguses |
| WASF1WASP family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP10AATPase phospholipid transporting 10A (putative) | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORL1BCL6 corepressor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD3chromodomain helicase DNA binding protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GBA2glucosylceramidase beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCND3potassium voltage-gated channel subfamily D member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NBEAneurobeachin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRXN1neurexin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH1ribonuclease H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SIM1SIM bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GALCgalactosylceramidase | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Pole registreeritud | Esineb 1 haiguses |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Pole registreeritud | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Pole registreeritud | Esineb 1 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Pole registreeritud | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| RLIMring finger protein, LIM domain interacting | Pole registreeritud | Esineb 1 haiguses |
| SMSspermine synthase | Pole registreeritud | Esineb 1 haiguses |
| TBC1D23TBC1 domain family member 23 | Pole registreeritud | Esineb 1 haiguses |
| TBPTATA-box binding protein | Pole registreeritud | Esineb 1 haiguses |
| THRAthyroid hormone receptor alpha | Pole registreeritud | Esineb 1 haiguses |
| TKFCtriokinase and FMN cyclase | Pole registreeritud | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Pole registreeritud | Esineb 1 haiguses |
| TRIM2tripartite motif containing 2 | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Pole registreeritud | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Pole registreeritud | Esineb 1 haiguses |
| VLDLRvery low density lipoprotein receptor | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Pole registreeritud | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Pole registreeritud | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast