Tunnus
Choreoathetosis
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Kokkuvõte
- Teised nimetused
- Choreoathetoid movements
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Choreoathetosis, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test140 geeni on seotud tunnusega Choreoathetosis
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Choreoathetosis. 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 |
|---|---|---|
| CERS1ceramide synthase 1 | Alati | Esineb 1 haiguses |
| ELP2elongator acetyltransferase complex subunit 2 | Alati | Esineb 1 haiguses |
| FRRS1Lferric chelate reductase 1 like | Alati | Esineb 1 haiguses |
| GCH1GTP cyclohydrolase 1 | Alati | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Alati | Esineb 1 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Alati | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Alati | Esineb 1 haiguses |
| IREB2iron responsive element binding protein 2 | Alati | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Alati | Esineb 1 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 2 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alati | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Alati | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Alati | Esineb 2 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alati | Esineb 2 haiguses |
| SLC30A9solute carrier family 30 member 9 | Alati | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Alati | Esineb 1 haiguses |
| TNRtenascin R | Alati | Esineb 1 haiguses |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alati | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DCAF17DDB1 and CUL4 associated factor 17 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Väga sageli (80–99%) | Esineb 7 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABAT4-aminobutyrate aminotransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Sageli (30–79%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Sageli (30–79%) | Esineb 1 haiguses |
| ADCY5adenylate cyclase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sageli (30–79%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 2 haiguses |
| CMPK2cytidine/uridine monophosphate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COX20cytochrome c oxidase assembly factor COX20 | Sageli (30–79%) | Esineb 1 haiguses |
| DLATdihydrolipoamide S-acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 100 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GTPBP2GTP binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GUF1GTP binding elongation factor GUF1 | Sageli (30–79%) | Esineb 1 haiguses |
| JAM2junctional adhesion molecule 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MED23mediator complex subunit 23 | Sageli (30–79%) | Esineb 1 haiguses |
| MRE11MRE11 double strand break repair nuclease | Sageli (30–79%) | Esineb 1 haiguses |
| MRPS34mitochondrial ribosomal protein S34 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MYORGmyogenesis regulating glycosidase | Sageli (30–79%) | Esineb 1 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Sageli (30–79%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP54nucleoporin 54 | Sageli (30–79%) | Esineb 2 haiguses |
| NUP62nucleoporin 62 | Sageli (30–79%) | Esineb 2 haiguses |
| PDGFBplatelet derived growth factor subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sageli (30–79%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PNKDPNKD metallo-beta-lactamase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Sageli (30–79%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC20A2solute carrier family 20 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Sageli (30–79%) | Esineb 1 haiguses |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ARXaristaless related homeobox | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATG7autophagy related 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHKAcholine kinase alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| DMXL2Dmx like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNASGNAS complex locus | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCFC1host cell factor C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MICU1mitochondrial calcium uptake 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Mõnikord (5–29%) | Esineb 2 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU3F3POU class 3 homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTS6-pyruvoyltetrahydropterin synthase | Mõnikord (5–29%) | Esineb 2 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETXsenataxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH2B1SH2B adaptor protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIK1salt inducible kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN4spectrin beta, non-erythrocytic 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM106Btransmembrane protein 106B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM151Atransmembrane protein 151A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Pole registreeritud | Esineb 1 haiguses |
| DDCdopa decarboxylase | Pole registreeritud | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 1 haiguses |
| FTLferritin light chain | Pole registreeritud | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Pole registreeritud | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| QDPRquinoid dihydropteridine reductase | Pole registreeritud | Esineb 1 haiguses |
| SLC25A42solute carrier family 25 member 42 | Pole registreeritud | Esineb 1 haiguses |
| SPRsepiapterin reductase | Pole registreeritud | Esineb 1 haiguses |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Pole registreeritud | Esineb 1 haiguses |
| SUOXsulfite oxidase | Pole registreeritud | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast