Egenskap
Choreoathetosis
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Sammendrag
- Også kalt
- Choreoathetoid movements
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test140 gener knyttet til Choreoathetosis
Endringer i disse genene forårsaker sjeldne tilstander der Choreoathetosis forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CERS1ceramide synthase 1 | Alltid | I 1 tilstand |
| ELP2elongator acetyltransferase complex subunit 2 | Alltid | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Alltid | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Alltid | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Alltid | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 2 tilstander |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alltid | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Alltid | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Alltid | I 2 tilstander |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 2 tilstander |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 1 tilstand |
| TNRtenascin R | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| ATMATM serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 2 tilstander |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Svært ofte (80–99 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Svært ofte (80–99 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Svært ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 7 tilstander |
| TSEN15tRNA splicing endonuclease subunit 15 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Svært ofte (80–99 %) | I 1 tilstand |
| ABAT4-aminobutyrate aminotransferase | Ofte (30–79 %) | I 1 tilstand |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| COX20cytochrome c oxidase assembly factor COX20 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
Vis 100 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MED23mediator complex subunit 23 | Ofte (30–79 %) | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ofte (30–79 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ofte (30–79 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 2 tilstander |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstander |
| PDGFBplatelet derived growth factor subunit B | Ofte (30–79 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 3 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Ofte (30–79 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 2 tilstander |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Noen ganger (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNASGNAS complex locus | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| HCFC1host cell factor C1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Noen ganger (5–29 %) | I 1 tilstand |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Noen ganger (5–29 %) | I 2 tilstander |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Noen ganger (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETXsenataxin | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM106Btransmembrane protein 106B | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM151Atransmembrane protein 151A | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| DDCdopa decarboxylase | Ikke registrert | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ikke registrert | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 1 tilstand |
| FTLferritin light chain | Ikke registrert | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Ikke registrert | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ikke registrert | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ikke registrert | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registrert | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registrert | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registrert | I 1 tilstand |
| SPRsepiapterin reductase | Ikke registrert | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Ikke registrert | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registrert | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Datautgave 2026.10.16-c6eea6bf.
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