Požymis
Webbed neck
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Santrauka
- Taip pat vadinama
- Neck webbing, Pterygium colli
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Webbed 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 |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 7 ligose |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| MYO18Bmyosin XVIIIB | Visada | 1 ligoje |
| RC3H1ring finger and CCCH-type domains 1 | Visada | 1 ligoje |
| SLC39A13solute carrier family 39 member 13 | Visada | 1 ligoje |
| SMSspermine synthase | Visada | 2 ligose |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Visada | 2 ligose |
| SPRED2sprouty related EVH1 domain containing 2 | Visada | 2 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Labai dažnai (80–99%) | 1 ligoje |
| GDF3growth differentiation factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Labai dažnai (80–99%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 4 ligose |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 3 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Labai dažnai (80–99%) | 3 ligose |
| MEOX1mesenchyme homeobox 1 | Labai dažnai (80–99%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Labai dažnai (80–99%) | 4 ligose |
| NALCNsodium leak channel, non-selective | Labai dažnai (80–99%) | 1 ligoje |
| NF1neurofibromin 1 | Labai dažnai (80–99%) | 4 ligose |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Labai dažnai (80–99%) | 2 ligose |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 4 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 4 ligose |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 2 ligose |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Labai dažnai (80–99%) | 2 ligose |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 2 ligose |
| TNNI2troponin I2, fast skeletal type | Labai dažnai (80–99%) | 2 ligose |
| TNNT3troponin T3, fast skeletal type | Labai dažnai (80–99%) | 1 ligoje |
| TPM2tropomyosin 2 | Labai dažnai (80–99%) | 2 ligose |
| AEBP1AE binding protein 1 | Dažnai (30–79%) | 2 ligose |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Dažnai (30–79%) | 1 ligoje |
| ALPK3alpha kinase 3 | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 2 ligose |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Dažnai (30–79%) | 2 ligose |
Rodyti dar 88 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| C2CD3C2 domain containing 3 centriole elongation regulator | Dažnai (30–79%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FANCLFA complementation group L | Dažnai (30–79%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| LAMA5laminin subunit alpha 5 | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 4 ligose |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TASP1taspase 1 | Dažnai (30–79%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| ACTG1actin gamma 1 | Kartais (5–29%) | 2 ligose |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 2 ligose |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| CPLX1complexin 1 | Kartais (5–29%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| EFNB1ephrin B1 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Kartais (5–29%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FOXC2forkhead box C2 | Kartais (5–29%) | 2 ligose |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| GATA2GATA binding protein 2 | Kartais (5–29%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 2 ligose |
| NSD2nuclear receptor binding SET domain protein 2 | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Kartais (5–29%) | 1 ligoje |
| RPL11ribosomal protein L11 | Kartais (5–29%) | 1 ligoje |
| RPL15ribosomal protein L15 | Kartais (5–29%) | 1 ligoje |
| RPL18ribosomal protein L18 | Kartais (5–29%) | 1 ligoje |
| RPL26ribosomal protein L26 | Kartais (5–29%) | 1 ligoje |
| RPL27ribosomal protein L27 | Kartais (5–29%) | 1 ligoje |
| RPL31ribosomal protein L31 | Kartais (5–29%) | 1 ligoje |
| RPL35ribosomal protein L35 | Kartais (5–29%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Kartais (5–29%) | 1 ligoje |
| RPL5ribosomal protein L5 | Kartais (5–29%) | 1 ligoje |
| RPL8ribosomal protein L8 | Kartais (5–29%) | 1 ligoje |
| RPL9ribosomal protein L9 | Kartais (5–29%) | 1 ligoje |
| RPS10ribosomal protein S10 | Kartais (5–29%) | 2 ligose |
| RPS15Aribosomal protein S15a | Kartais (5–29%) | 1 ligoje |
| RPS17ribosomal protein S17 | Kartais (5–29%) | 1 ligoje |
| RPS19ribosomal protein S19 | Kartais (5–29%) | 2 ligose |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RPS24ribosomal protein S24 | Kartais (5–29%) | 2 ligose |
| RPS26ribosomal protein S26 | Kartais (5–29%) | 1 ligoje |
| RPS27ribosomal protein S27 | Kartais (5–29%) | 1 ligoje |
| RPS28ribosomal protein S28 | Kartais (5–29%) | 1 ligoje |
| RPS29ribosomal protein S29 | Kartais (5–29%) | 1 ligoje |
| RPS7ribosomal protein S7 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Kartais (5–29%) | 2 ligose |
| SRYsex determining region Y | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| TBX2T-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TMEM260transmembrane protein 260 | Kartais (5–29%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Kartais (5–29%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| WBP11WW domain binding protein 11 | Kartais (5–29%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Retai (1–4 %) | 2 ligose |
| NKX2-1NK2 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| SEMA3Esemaphorin 3E | Retai (1–4 %) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BMPERBMP binding endothelial regulator | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Neužfiksuota | 1 ligoje |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Neužfiksuota | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 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.
Platesni požymiai
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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