Piirre
Choreoathetosis
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Yhteenveto
- Tunnetaan myös nimellä
- Choreoathetoid movements
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Choreoathetosis, and the rest of your genome, with one test.
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Tilaa Genome Test140 geeniä, jotka liittyvät piirteeseen Choreoathetosis
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Choreoathetosis esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CERS1ceramide synthase 1 | Aina | 1 sairaudessa |
| ELP2elongator acetyltransferase complex subunit 2 | Aina | 1 sairaudessa |
| FRRS1Lferric chelate reductase 1 like | Aina | 1 sairaudessa |
| GCH1GTP cyclohydrolase 1 | Aina | 1 sairaudessa |
| GJC2gap junction protein gamma 2 | Aina | 1 sairaudessa |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Aina | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| IREB2iron responsive element binding protein 2 | Aina | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Aina | 1 sairaudessa |
| NADK2NAD kinase 2, mitochondrial | Aina | 2 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Aina | 1 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Aina | 1 sairaudessa |
| NKX2-1NK2 homeobox 1 | Aina | 2 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Aina | 2 sairaudessa |
| SLC30A9solute carrier family 30 member 9 | Aina | 1 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Aina | 1 sairaudessa |
| TNRtenascin R | Aina | 1 sairaudessa |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Aina | 1 sairaudessa |
| ATMATM serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| DCAF17DDB1 and CUL4 associated factor 17 | Hyvin usein (80–99%) | 2 sairaudessa |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Hyvin usein (80–99%) | 1 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Hyvin usein (80–99%) | 7 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABAT4-aminobutyrate aminotransferase | Usein (30–79%) | 1 sairaudessa |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Usein (30–79%) | 1 sairaudessa |
| ADARadenosine deaminase RNA specific | Usein (30–79%) | 1 sairaudessa |
| ADCY5adenylate cyclase 5 | Usein (30–79%) | 1 sairaudessa |
| ATN1atrophin 1 | Usein (30–79%) | 2 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Usein (30–79%) | 1 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Usein (30–79%) | 2 sairaudessa |
| CMPK2cytidine/uridine monophosphate kinase 2 | Usein (30–79%) | 1 sairaudessa |
| COX20cytochrome c oxidase assembly factor COX20 | Usein (30–79%) | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
Näytä 100 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GTPBP2GTP binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| GUF1GTP binding elongation factor GUF1 | Usein (30–79%) | 1 sairaudessa |
| JAM2junctional adhesion molecule 2 | Usein (30–79%) | 1 sairaudessa |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Usein (30–79%) | 1 sairaudessa |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Usein (30–79%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| MED23mediator complex subunit 23 | Usein (30–79%) | 1 sairaudessa |
| MRE11MRE11 double strand break repair nuclease | Usein (30–79%) | 1 sairaudessa |
| MRPS34mitochondrial ribosomal protein S34 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MYORGmyogenesis regulating glycosidase | Usein (30–79%) | 1 sairaudessa |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Usein (30–79%) | 1 sairaudessa |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Usein (30–79%) | 1 sairaudessa |
| NGLY1N-glycanase 1 | Usein (30–79%) | 1 sairaudessa |
| NUP54nucleoporin 54 | Usein (30–79%) | 2 sairaudessa |
| NUP62nucleoporin 62 | Usein (30–79%) | 2 sairaudessa |
| PDGFBplatelet derived growth factor subunit B | Usein (30–79%) | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Usein (30–79%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Usein (30–79%) | 1 sairaudessa |
| PLP1proteolipid protein 1 | Usein (30–79%) | 1 sairaudessa |
| PNKDPNKD metallo-beta-lactamase domain containing | Usein (30–79%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| RRP12ribosomal RNA processing 12 homolog | Usein (30–79%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Usein (30–79%) | 3 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Usein (30–79%) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC20A2solute carrier family 20 member 2 | Usein (30–79%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Usein (30–79%) | 1 sairaudessa |
| TUBB4Atubulin beta 4A class IVa | Usein (30–79%) | 1 sairaudessa |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Usein (30–79%) | 2 sairaudessa |
| ARXaristaless related homeobox | Joskus (5–29%) | 2 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Joskus (5–29%) | 2 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Joskus (5–29%) | 2 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Joskus (5–29%) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Joskus (5–29%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| CHKAcholine kinase alpha | Joskus (5–29%) | 1 sairaudessa |
| DMXL2Dmx like 2 | Joskus (5–29%) | 1 sairaudessa |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Joskus (5–29%) | 1 sairaudessa |
| FBXO28F-box protein 28 | Joskus (5–29%) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Joskus (5–29%) | 1 sairaudessa |
| GNAO1G protein subunit alpha o1 | Joskus (5–29%) | 1 sairaudessa |
| GNASGNAS complex locus | Joskus (5–29%) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Joskus (5–29%) | 1 sairaudessa |
| HCFC1host cell factor C1 | Joskus (5–29%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Joskus (5–29%) | 2 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Joskus (5–29%) | 1 sairaudessa |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Joskus (5–29%) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Joskus (5–29%) | 2 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Joskus (5–29%) | 1 sairaudessa |
| MICU1mitochondrial calcium uptake 1 | Joskus (5–29%) | 1 sairaudessa |
| MMUTmethylmalonyl-CoA mutase | Joskus (5–29%) | 2 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Joskus (5–29%) | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Joskus (5–29%) | 1 sairaudessa |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Joskus (5–29%) | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Joskus (5–29%) | 1 sairaudessa |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| POU3F3POU class 3 homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| PTS6-pyruvoyltetrahydropterin synthase | Joskus (5–29%) | 2 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Joskus (5–29%) | 2 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SETXsenataxin | Joskus (5–29%) | 1 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SIK1salt inducible kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Joskus (5–29%) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SPTBN4spectrin beta, non-erythrocytic 4 | Joskus (5–29%) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| SYT1synaptotagmin 1 | Joskus (5–29%) | 2 sairaudessa |
| TMEM106Btransmembrane protein 106B | Joskus (5–29%) | 1 sairaudessa |
| TMEM151Atransmembrane protein 151A | Joskus (5–29%) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Joskus (5–29%) | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ei kirjattu | 1 sairaudessa |
| DDCdopa decarboxylase | Ei kirjattu | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ei kirjattu | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ei kirjattu | 1 sairaudessa |
| FTLferritin light chain | Ei kirjattu | 1 sairaudessa |
| GCDHglutaryl-CoA dehydrogenase | Ei kirjattu | 1 sairaudessa |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ei kirjattu | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ei kirjattu | 1 sairaudessa |
| QDPRquinoid dihydropteridine reductase | Ei kirjattu | 1 sairaudessa |
| SLC25A42solute carrier family 25 member 42 | Ei kirjattu | 1 sairaudessa |
| SPRsepiapterin reductase | Ei kirjattu | 1 sairaudessa |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ei kirjattu | 1 sairaudessa |
| SUOXsulfite oxidase | Ei kirjattu | 1 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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