Tunnus
Lack of coordination of movement
Kliiniline nimetus: 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.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Lack of coordination of movement, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test179 geeni on seotud tunnusega Lack of coordination of movement
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Lack of coordination of movement. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alati | Esineb 2 haiguses |
| ACBD5acyl-CoA binding domain containing 5 | Alati | Esineb 1 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Alati | Esineb 2 haiguses |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 2 haiguses |
| ATG5autophagy related 5 | Alati | Esineb 1 haiguses |
| ATXN7ataxin 7 | Alati | Esineb 2 haiguses |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alati | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Alati | Esineb 1 haiguses |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Alati | Esineb 2 haiguses |
| CHP1calcineurin like EF-hand protein 1 | Alati | Esineb 1 haiguses |
| COA7cytochrome c oxidase assembly factor 7 | Alati | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Alati | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Alati | Esineb 1 haiguses |
| CRATcarnitine O-acetyltransferase | Alati | Esineb 1 haiguses |
| CTSAcathepsin A | Alati | Esineb 1 haiguses |
| CWF19L1CWF19 like cell cycle control factor 1 | Alati | Esineb 2 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| GFAPglial fibrillary acidic protein | Alati | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Alati | Esineb 2 haiguses |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Alati | Esineb 1 haiguses |
| GRM1glutamate metabotropic receptor 1 | Alati | Esineb 3 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Alati | Esineb 1 haiguses |
| HTRA1HtrA serine peptidase 1 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Alati | Esineb 2 haiguses |
| MAGmyelin associated glycoprotein | Alati | Esineb 2 haiguses |
| MALmal, T cell differentiation protein (MAL blood group) | Alati | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Alati | Esineb 1 haiguses |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Alati | Esineb 1 haiguses |
| PMPCApeptidase, mitochondrial processing subunit alpha | Alati | Esineb 2 haiguses |
| PNPLA8patatin like domain 8, phospholipase A2 | Alati | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Alati | Esineb 2 haiguses |
| PRDM13PR/SET domain 13 | Alati | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Alati | Esineb 2 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
Näita veel 139 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SLC9A1solute carrier family 9 member A1 | Alati | Esineb 1 haiguses |
| SPARTspartin | Alati | Esineb 1 haiguses |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alati | Esineb 3 haiguses |
| TGM6transglutaminase 6 | Alati | Esineb 2 haiguses |
| TOP3ADNA topoisomerase III alpha | Alati | Esineb 1 haiguses |
| TPP1tripeptidyl peptidase 1 | Alati | Esineb 2 haiguses |
| TTPAalpha tocopherol transfer protein | Alati | Esineb 2 haiguses |
| UROC1urocanate hydratase 1 | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| XRCC1X-ray repair cross complementing 1 | Alati | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANO10anoctamin 10 | Sageli (30–79%) | Esineb 2 haiguses |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN10ataxin 10 | Sageli (30–79%) | Esineb 2 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CAPN1calpain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ5coenzyme Q5, methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL1ELOVL fatty acid elongase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FA2Hfatty acid 2-hydroxylase | Sageli (30–79%) | Esineb 2 haiguses |
| FXNfrataxin | Sageli (30–79%) | Esineb 1 haiguses |
| GJB1gap junction protein beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IFRD1interferon related developmental regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF1Akinesin family member 1A | Sageli (30–79%) | Esineb 2 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LNPKlunapark, ER junction formation factor | Sageli (30–79%) | Esineb 1 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| MRE11MRE11 double strand break repair nuclease | Sageli (30–79%) | Esineb 2 haiguses |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NOP56NOP56 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| OGDHoxoglutarate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| PDYNprodynorphin | Sageli (30–79%) | Esineb 2 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PITRM1pitrilysin metallopeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 3 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 2 haiguses |
| POU4F1POU class 4 homeobox 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sageli (30–79%) | Esineb 1 haiguses |
| RARS1arginyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| REPS1RALBP1 associated Eps domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RFC1replication factor C subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SACSsacsin molecular chaperone | Sageli (30–79%) | Esineb 2 haiguses |
| SAMD9Lsterile alpha motif domain containing 9 like | Sageli (30–79%) | Esineb 2 haiguses |
| SFXN4sideroflexin 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SHMT2serine hydroxymethyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC13A3solute carrier family 13 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A15solute carrier family 25 member 15 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Sageli (30–79%) | Esineb 1 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 1 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TSPOAP1TSPO associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Sageli (30–79%) | Esineb 1 haiguses |
| YME1L1YME1 like 1 ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| AASSaminoadipate-semialdehyde synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADPRSADP-ribosylserine hydrolase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN1ataxin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLN5CLN5 lysosomal BMP synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FTH1ferritin heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IVDisovaleryl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| PMPCBpeptidase, mitochondrial processing subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Mõnikord (5–29%) | Esineb 2 haiguses |
| RNASEH1ribonuclease H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC5A6solute carrier family 5 member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRPX2sushi repeat containing protein X-linked 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM106Btransmembrane protein 106B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM63Atransmembrane protein 63A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC19tetratricopeptide repeat domain 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMP2lysosome associated membrane protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Pole registreeritud | Esineb 1 haiguses |
| ATXN2ataxin 2 | Pole registreeritud | Esineb 1 haiguses |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Pole registreeritud | Esineb 1 haiguses |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Pole registreeritud | Esineb 1 haiguses |
| CAV1caveolin 1 | Pole registreeritud | Esineb 1 haiguses |
| DEGS1delta 4-desaturase, sphingolipid 1 | Pole registreeritud | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Pole registreeritud | Esineb 1 haiguses |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Pole registreeritud | Esineb 1 haiguses |
| MYORGmyogenesis regulating glycosidase | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Pole registreeritud | Esineb 1 haiguses |
| NFASCneurofascin | Pole registreeritud | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Pole registreeritud | Esineb 1 haiguses |
| PLD3phospholipase D family member 3 | Pole registreeritud | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Pole registreeritud | Esineb 1 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Pole registreeritud | Esineb 1 haiguses |
| PRICKLE1prickle planar cell polarity protein 1 | Pole registreeritud | Esineb 1 haiguses |
| PRKCGprotein kinase C gamma | Pole registreeritud | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Pole registreeritud | Esineb 1 haiguses |
| STUB1STIP1 homology and U-box containing protein 1 | Pole registreeritud | Esineb 1 haiguses |
| TBPTATA-box binding protein | Pole registreeritud | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Pole registreeritud | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Pole registreeritud | Esineb 1 haiguses |
| VLDLRvery low density lipoprotein receptor | Pole registreeritud | Esineb 1 haiguses |
| VWA3Bvon Willebrand factor A domain containing 3B | Pole registreeritud | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | 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.
Kitsamad tunnused
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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast