Tunnus
Involuntary writhing movements in fingers, hands, toes, and feet
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Athetoid movements, Involuntary writhing movements
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test69 geeni on seotud tunnusega Involuntary writhing movements in fingers, hands, toes, and feet
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Involuntary writhing movements in fingers, hands, toes, and feet. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alati | Esineb 1 haiguses |
| ACO2aconitase 2 | Alati | Esineb 1 haiguses |
| DDCdopa decarboxylase | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Alati | Esineb 1 haiguses |
| KIF5Akinesin family member 5A | Alati | Esineb 1 haiguses |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Alati | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Alati | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Alati | Esineb 1 haiguses |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alati | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Sageli (30–79%) | Esineb 2 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3KRNA polymerase III subunit K | Sageli (30–79%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| AQP4aquaporin 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUX2cut like homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYB5Acytochrome b5 type A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYB5R3cytochrome b5 reductase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FTH1ferritin heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAMTguanidinoacetate N-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GPRC5BG protein-coupled receptor class C group 5 member B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCFC1host cell factor C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEPACAMhepatic and glial cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 29 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MECRmitochondrial trans-2-enoyl-CoA reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLC1modulator of VRAC current 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PCpyruvate carboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASET2ribonuclease T2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPG21SPG21 abhydrolase domain containing, maspardin | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YME1L1YME1 like 1 ATPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFBplatelet derived growth factor subunit B | Harva (1–4%) | Esineb 2 haiguses |
| FOXG1forkhead box G1 | Pole registreeritud | Esineb 1 haiguses |
| JAM2junctional adhesion molecule 2 | Pole registreeritud | Esineb 1 haiguses |
| MYORGmyogenesis regulating glycosidase | Pole registreeritud | Esineb 1 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Pole registreeritud | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Pole registreeritud | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC17A5solute carrier family 17 member 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC20A2solute carrier family 20 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC46A1solute carrier family 46 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Pole registreeritud | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Pole registreeritud | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Pole registreeritud | Esineb 1 haiguses |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast