Požymis
Wry neck
Klinikinis pavadinimas: Torticollis
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
Santrauka
- Taip pat vadinama
- Cervical dystonia, Loxia, Spasmodic torticollis
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test82 genų susiję su Wry neck
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Wry neck. 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 |
|---|---|---|
| ANO3anoctamin 3 | Visada | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Visada | 3 ligose |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MYF5myogenic factor 5 | Visada | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Visada | 1 ligoje |
| SCP2sterol carrier protein 2 | Visada | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Visada | 2 ligose |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Visada | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Labai dažnai (80–99%) | 2 ligose |
| SGCEsarcoglycan epsilon | Labai dažnai (80–99%) | 2 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 2 ligose |
| CIZ1CDKN1A interacting zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 3 ligose |
| COL6A2collagen type VI alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COX20cytochrome c oxidase assembly factor COX20 | Dažnai (30–79%) | 1 ligoje |
| DDCdopa decarboxylase | Dažnai (30–79%) | 1 ligoje |
| DRD2dopamine receptor D2 | Dažnai (30–79%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 2 ligose |
| GDAP2ganglioside induced differentiation associated protein 2 | Dažnai (30–79%) | 1 ligoje |
| GNALG protein subunit alpha L | Dažnai (30–79%) | 2 ligose |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| HPCAhippocalcin | Dažnai (30–79%) | 2 ligose |
| IMPDH2inosine monophosphate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Dažnai (30–79%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Dažnai (30–79%) | 1 ligoje |
| KCTD17potassium channel tetramerization domain containing 17 | Dažnai (30–79%) | 2 ligose |
| KMT2Blysine methyltransferase 2B | Dažnai (30–79%) | 2 ligose |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NEK9NIMA related kinase 9 | Dažnai (30–79%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 1 ligoje |
| PRDX3peroxiredoxin 3 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 42 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Dažnai (30–79%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Dažnai (30–79%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Dažnai (30–79%) | 1 ligoje |
| TBPTATA-box binding protein | Dažnai (30–79%) | 1 ligoje |
| TGM6transglutaminase 6 | Dažnai (30–79%) | 2 ligose |
| THAP1THAP domain containing 1 | Dažnai (30–79%) | 2 ligose |
| TOR1Atorsin family 1 member A | Dažnai (30–79%) | 2 ligose |
| TUBB4Atubulin beta 4A class IVa | Dažnai (30–79%) | 2 ligose |
| ZNF142zinc finger protein 142 | Dažnai (30–79%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Kartais (5–29%) | 1 ligoje |
| CEP85Lcentrosomal protein 85L | Kartais (5–29%) | 1 ligoje |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CPceruloplasmin | Kartais (5–29%) | 2 ligose |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| HK1hexokinase 1 | Kartais (5–29%) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Kartais (5–29%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Kartais (5–29%) | 2 ligose |
| KIF21Akinesin family member 21A | Kartais (5–29%) | 1 ligoje |
| NAXENAD(P)HX epimerase | Kartais (5–29%) | 1 ligoje |
| PHLDB1pleckstrin homology like domain family B member 1 | Kartais (5–29%) | 1 ligoje |
| PHOX2Apaired like homeobox 2A | Kartais (5–29%) | 1 ligoje |
| PNKDPNKD metallo-beta-lactamase domain containing | Kartais (5–29%) | 2 ligose |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| RNF170ring finger protein 170 | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Kartais (5–29%) | 1 ligoje |
| TMEM151Atransmembrane protein 151A | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 2 ligose |
| VPS13Dvacuolar protein sorting 13 homolog D | Kartais (5–29%) | 1 ligoje |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Neužfiksuota | 1 ligoje |
| COLEC11collectin subfamily member 11 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | 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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