Tunnus
Wry neck
Kliiniline nimetus: Torticollis
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
Kokkuvõte
- Teised nimetused
- Cervical dystonia, Loxia, Spasmodic torticollis
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Wry neck, and the rest of your genome, with one test.
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Telli oma Genome Test82 geeni on seotud tunnusega Wry neck
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Wry neck. 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 |
|---|---|---|
| ANO3anoctamin 3 | Alati | Esineb 2 haiguses |
| COL6A3collagen type VI alpha 3 chain | Alati | Esineb 3 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Alati | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| MYF5myogenic factor 5 | Alati | Esineb 1 haiguses |
| PGBD5piggyBac transposable element derived 5 | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| ROBO3roundabout guidance receptor 3 | Alati | Esineb 1 haiguses |
| SCP2sterol carrier protein 2 | Alati | Esineb 1 haiguses |
| TSPOAP1TSPO associated protein 1 | Alati | Esineb 2 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Alati | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Väga sageli (80–99%) | Esineb 2 haiguses |
| SGCEsarcoglycan epsilon | Väga sageli (80–99%) | Esineb 2 haiguses |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sageli (30–79%) | Esineb 2 haiguses |
| CIZ1CDKN1A interacting zinc finger protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Sageli (30–79%) | Esineb 3 haiguses |
| COL6A2collagen type VI alpha 2 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COX20cytochrome c oxidase assembly factor COX20 | Sageli (30–79%) | Esineb 1 haiguses |
| DDCdopa decarboxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DRD2dopamine receptor D2 | Sageli (30–79%) | Esineb 1 haiguses |
| GCH1GTP cyclohydrolase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GDAP2ganglioside induced differentiation associated protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GNALG protein subunit alpha L | Sageli (30–79%) | Esineb 2 haiguses |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HPCAhippocalcin | Sageli (30–79%) | Esineb 2 haiguses |
| IMPDH2inosine monophosphate dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCTD17potassium channel tetramerization domain containing 17 | Sageli (30–79%) | Esineb 2 haiguses |
| KMT2Blysine methyltransferase 2B | Sageli (30–79%) | Esineb 2 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| NEK9NIMA related kinase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| NKX6-2NK6 homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PRDX3peroxiredoxin 3 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 42 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBPTATA-box binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TGM6transglutaminase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| THAP1THAP domain containing 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TOR1Atorsin family 1 member A | Sageli (30–79%) | Esineb 2 haiguses |
| TUBB4Atubulin beta 4A class IVa | Sageli (30–79%) | Esineb 2 haiguses |
| ZNF142zinc finger protein 142 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP85Lcentrosomal protein 85L | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPceruloplasmin | Mõnikord (5–29%) | Esineb 2 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF21Akinesin family member 21A | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHLDB1pleckstrin homology like domain family B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHOX2Apaired like homeobox 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKDPNKD metallo-beta-lactamase domain containing | Mõnikord (5–29%) | Esineb 2 haiguses |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF170ring finger protein 170 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM151Atransmembrane protein 151A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBA1Atubulin alpha 1a | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB2Btubulin beta 2B class IIb | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Mõnikord (5–29%) | Esineb 2 haiguses |
| VPS13Dvacuolar protein sorting 13 homolog D | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Pole registreeritud | Esineb 1 haiguses |
| COLEC11collectin subfamily member 11 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast