Tunnus
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.
Kokkuvõte
- Teised nimetused
- Neck webbing, Pterygium colli
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Webbed neck, and the rest of your genome, with one test.
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Telli oma Genome Test128 geeni on seotud tunnusega Webbed neck
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Webbed 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 |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 7 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Alati | Esineb 1 haiguses |
| MYO18Bmyosin XVIIIB | Alati | Esineb 1 haiguses |
| RC3H1ring finger and CCCH-type domains 1 | Alati | Esineb 1 haiguses |
| SLC39A13solute carrier family 39 member 13 | Alati | Esineb 1 haiguses |
| SMSspermine synthase | Alati | Esineb 2 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Alati | Esineb 2 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Alati | Esineb 2 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF3growth differentiation factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 4 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MEOX1mesenchyme homeobox 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Väga sageli (80–99%) | Esineb 4 haiguses |
| NALCNsodium leak channel, non-selective | Väga sageli (80–99%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 4 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 4 haiguses |
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TNNI2troponin I2, fast skeletal type | Väga sageli (80–99%) | Esineb 2 haiguses |
| TNNT3troponin T3, fast skeletal type | Väga sageli (80–99%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AEBP1AE binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALPK3alpha kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 88 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| C2CD3C2 domain containing 3 centriole elongation regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Sageli (30–79%) | Esineb 1 haiguses |
| FILIP1filamin A interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA5laminin subunit alpha 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 4 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TASP1taspase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ACTBactin beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ADA2adenosine deaminase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Mõnikord (5–29%) | Esineb 2 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CHN1chimerin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EFNB1ephrin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXW11F-box and WD repeat domain containing 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXC2forkhead box C2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GATA1GATA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA2GATA binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| RB1RB transcriptional corepressor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPS15Aribosomal protein S15a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPS26ribosomal protein S26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SRYsex determining region Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX2T-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM260transmembrane protein 260 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| WBP11WW domain binding protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Harva (1–4%) | Esineb 2 haiguses |
| NKX2-1NK2 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Harva (1–4%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| BLTP1bridge-like lipid transfer protein family member 1 | Pole registreeritud | Esineb 1 haiguses |
| BMPERBMP binding endothelial regulator | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Pole registreeritud | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Pole registreeritud | Esineb 1 haiguses |
| SLC35A1solute carrier family 35 member A1 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 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.
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