Træk
Involuntary writhing movements in fingers, hands, toes, and feet
Klinisk navn: Athetosis
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Resumé
- Også kaldet
- Athetoid movements, Involuntary writhing movements
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test69 gener knyttet til Involuntary writhing movements in fingers, hands, toes, and feet
Ændringer i disse gener forårsager sjældne tilstande, hvor Involuntary writhing movements in fingers, hands, toes, and feet ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altid | I 1 tilstand |
| ACO2aconitase 2 | Altid | I 1 tilstand |
| DDCdopa decarboxylase | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Altid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Altid | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Altid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 2 tilstande |
| GCDHglutaryl-CoA dehydrogenase | 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 |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| POLR3KRNA polymerase III subunit K | Ofte (30–79 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 1 tilstand |
| AQP4aquaporin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Nogle gange (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 2 tilstande |
| GPRC5BG protein-coupled receptor class C group 5 member B | Nogle gange (5–29 %) | I 1 tilstand |
| HCFC1host cell factor C1 | Nogle gange (5–29 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
Vis 29 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PCpyruvate carboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Sjældent (1–4%) | I 2 tilstande |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ikke registreret | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ikke registreret | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ikke registreret | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registreret | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registreret | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registreret | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registreret | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ikke registreret | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ikke registreret | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ikke registreret | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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