Egenskap
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.
Sammendrag
- Også kalt
- Athetoid movements, Involuntary writhing 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 Test69 gener knyttet til Involuntary writhing movements in fingers, hands, toes, and feet
Endringer i disse genene forårsaker sjeldne tilstander der Involuntary writhing movements in fingers, hands, toes, and feet 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alltid | I 1 tilstand |
| ACO2aconitase 2 | Alltid | I 1 tilstand |
| DDCdopa decarboxylase | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Alltid | I 1 tilstand |
| KIF5Akinesin family member 5A | Alltid | I 1 tilstand |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Alltid | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Alltid | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Alltid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Svært ofte (80–99 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 2 tilstander |
| GPRC5BG protein-coupled receptor class C group 5 member B | Noen ganger (5–29 %) | I 1 tilstand |
| HCFC1host cell factor C1 | Noen ganger (5–29 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
Vis 29 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MECRmitochondrial trans-2-enoyl-CoA reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PCpyruvate carboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Sjelden (1–4%) | I 2 tilstander |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ikke registrert | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Ikke registrert | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ikke registrert | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registrert | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registrert | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Ikke registrert | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ikke registrert | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ikke registrert | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registrert | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registrert | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ikke registrert | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | 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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