Požymis
Involuntary writhing movements in fingers, hands, toes, and feet
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Athetoid movements, Involuntary writhing movements
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test69 genų susiję su Involuntary writhing movements in fingers, hands, toes, and feet
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Involuntary writhing movements in fingers, hands, toes, and feet. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Visada | 1 ligoje |
| ACO2aconitase 2 | Visada | 1 ligoje |
| DDCdopa decarboxylase | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Visada | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Visada | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Visada | 1 ligoje |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Labai dažnai (80–99%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Labai dažnai (80–99%) | 2 ligose |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Dažnai (30–79%) | 2 ligose |
| GCDHglutaryl-CoA dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Dažnai (30–79%) | 1 ligoje |
| PLP1proteolipid protein 1 | Dažnai (30–79%) | 1 ligoje |
| POLR3KRNA polymerase III subunit K | Dažnai (30–79%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 1 ligoje |
| AQP4aquaporin 4 | Kartais (5–29%) | 1 ligoje |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CUX2cut like homeobox 2 | Kartais (5–29%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Kartais (5–29%) | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| FTH1ferritin heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Kartais (5–29%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Kartais (5–29%) | 2 ligose |
| GPRC5BG protein-coupled receptor class C group 5 member B | Kartais (5–29%) | 1 ligoje |
| HCFC1host cell factor C1 | Kartais (5–29%) | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
Rodyti dar 29 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 1 ligoje |
| MLC1modulator of VRAC current 1 | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 2 ligose |
| PCpyruvate carboxylase | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Kartais (5–29%) | 1 ligoje |
| RNASET2ribonuclease T2 | Kartais (5–29%) | 1 ligoje |
| SPG21SPG21 abhydrolase domain containing, maspardin | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Retai (1–4 %) | 2 ligose |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Neužfiksuota | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Neužfiksuota | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Neužfiksuota | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Neužfiksuota | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Neužfiksuota | 1 ligoje |
| SLC46A1solute carrier family 46 member 1 | Neužfiksuota | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Neužfiksuota | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Neužfiksuota | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Neužfiksuota | 1 ligoje |
| UBQLN2ubiquilin 2 | Neužfiksuota | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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