Požymis
Lack of coordination of movement
Klinikinis pavadinimas: Dysmetria
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Lack of coordination of movement, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test179 genų susiję su Lack of coordination of movement
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Lack of coordination of movement. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 2 ligose |
| ACBD5acyl-CoA binding domain containing 5 | Visada | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Visada | 2 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 2 ligose |
| ATG5autophagy related 5 | Visada | 1 ligoje |
| ATXN7ataxin 7 | Visada | 2 ligose |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Visada | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Visada | 1 ligoje |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Visada | 2 ligose |
| CHP1calcineurin like EF-hand protein 1 | Visada | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Visada | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Visada | 1 ligoje |
| COQ4coenzyme Q4 | Visada | 1 ligoje |
| CRATcarnitine O-acetyltransferase | Visada | 1 ligoje |
| CTSAcathepsin A | Visada | 1 ligoje |
| CWF19L1CWF19 like cell cycle control factor 1 | Visada | 2 ligose |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| GFAPglial fibrillary acidic protein | Visada | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Visada | 2 ligose |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Visada | 1 ligoje |
| GRM1glutamate metabotropic receptor 1 | Visada | 3 ligose |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Visada | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KIF1Ckinesin family member 1C | Visada | 2 ligose |
| MAGmyelin associated glycoprotein | Visada | 2 ligose |
| MALmal, T cell differentiation protein (MAL blood group) | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Visada | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Visada | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Visada | 2 ligose |
| PNPLA8patatin like domain 8, phospholipase A2 | Visada | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Visada | 2 ligose |
| PRDM13PR/SET domain 13 | Visada | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Visada | 2 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
Rodyti dar 139 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SLC9A1solute carrier family 9 member A1 | Visada | 1 ligoje |
| SPARTspartin | Visada | 1 ligoje |
| SPTBN2spectrin beta, non-erythrocytic 2 | Visada | 3 ligose |
| TGM6transglutaminase 6 | Visada | 2 ligose |
| TOP3ADNA topoisomerase III alpha | Visada | 1 ligoje |
| TPP1tripeptidyl peptidase 1 | Visada | 2 ligose |
| TTPAalpha tocopherol transfer protein | Visada | 2 ligose |
| UROC1urocanate hydratase 1 | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| XRCC1X-ray repair cross complementing 1 | Visada | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Labai dažnai (80–99%) | 2 ligose |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Labai dažnai (80–99%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| ANO10anoctamin 10 | Dažnai (30–79%) | 2 ligose |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN10ataxin 10 | Dažnai (30–79%) | 2 ligose |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 2 ligose |
| CAPN1calpain 1 | Dažnai (30–79%) | 1 ligoje |
| COQ5coenzyme Q5, methyltransferase | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Dažnai (30–79%) | 1 ligoje |
| ERMARDER membrane associated RNA degradation | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FA2Hfatty acid 2-hydroxylase | Dažnai (30–79%) | 2 ligose |
| FXNfrataxin | Dažnai (30–79%) | 1 ligoje |
| GJB1gap junction protein beta 1 | Dažnai (30–79%) | 2 ligose |
| IFRD1interferon related developmental regulator 1 | Dažnai (30–79%) | 1 ligoje |
| KIF1Akinesin family member 1A | Dažnai (30–79%) | 2 ligose |
| LAGE3L antigen family member 3 | Dažnai (30–79%) | 1 ligoje |
| LNPKlunapark, ER junction formation factor | Dažnai (30–79%) | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| MRE11MRE11 double strand break repair nuclease | Dažnai (30–79%) | 2 ligose |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| NOP56NOP56 ribonucleoprotein | Dažnai (30–79%) | 1 ligoje |
| OGDHoxoglutarate dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Dažnai (30–79%) | 1 ligoje |
| PDYNprodynorphin | Dažnai (30–79%) | 2 ligose |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 2 ligose |
| PITRM1pitrilysin metallopeptidase 1 | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 3 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 2 ligose |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 2 ligose |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Dažnai (30–79%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| REPS1RALBP1 associated Eps domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| RFC1replication factor C subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SACSsacsin molecular chaperone | Dažnai (30–79%) | 2 ligose |
| SAMD9Lsterile alpha motif domain containing 9 like | Dažnai (30–79%) | 2 ligose |
| SFXN4sideroflexin 4 | Dažnai (30–79%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| SLC13A3solute carrier family 13 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Dažnai (30–79%) | 1 ligoje |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Dažnai (30–79%) | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Dažnai (30–79%) | 1 ligoje |
| TECPR2tectonin beta-propeller repeat containing 2 | Dažnai (30–79%) | 2 ligose |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TUBA4Atubulin alpha 4a | Dažnai (30–79%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| ADPRSADP-ribosylserine hydrolase | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Kartais (5–29%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CLN5CLN5 lysosomal BMP synthase | Kartais (5–29%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| FTH1ferritin heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| IVDisovaleryl-CoA dehydrogenase | Kartais (5–29%) | 1 ligoje |
| LIG3DNA ligase 3 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 3 ligose |
| PMPCBpeptidase, mitochondrial processing subunit beta | Kartais (5–29%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Kartais (5–29%) | 2 ligose |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 1 ligoje |
| SLC5A6solute carrier family 5 member 6 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 2 ligose |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Kartais (5–29%) | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Kartais (5–29%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Retai (1–4 %) | 1 ligoje |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 1 ligoje |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Neužfiksuota | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Neužfiksuota | 1 ligoje |
| CAV1caveolin 1 | Neužfiksuota | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Neužfiksuota | 1 ligoje |
| GJC2gap junction protein gamma 2 | Neužfiksuota | 1 ligoje |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Neužfiksuota | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Neužfiksuota | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Neužfiksuota | 1 ligoje |
| NFASCneurofascin | Neužfiksuota | 1 ligoje |
| NGLY1N-glycanase 1 | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| PLD3phospholipase D family member 3 | Neužfiksuota | 1 ligoje |
| PLP1proteolipid protein 1 | Neužfiksuota | 1 ligoje |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Neužfiksuota | 1 ligoje |
| PRICKLE1prickle planar cell polarity protein 1 | Neužfiksuota | 1 ligoje |
| PRKCGprotein kinase C gamma | Neužfiksuota | 1 ligoje |
| SQSTM1sequestosome 1 | Neužfiksuota | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Neužfiksuota | 1 ligoje |
| TBPTATA-box binding protein | Neužfiksuota | 1 ligoje |
| TCTN2tectonic family member 2 | Neužfiksuota | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Neužfiksuota | 1 ligoje |
| VLDLRvery low density lipoprotein receptor | Neužfiksuota | 1 ligoje |
| VWA3Bvon Willebrand factor A domain containing 3B | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | 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.
Siauresni požymiai
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.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites