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Požymis
Corners of eye widely separated
Klinikinis pavadinimas: Telecanthus
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Santrauka
- Taip pat vadinama
- Dystopia canthorum, Increased distance between medial canthi, Increased inner canthal distance, Increased intercanthal distance
- Kūno sistema
- Abnormality of head or neck
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/telecanthus.json"
page <- fromJSON(url)
page$trait$nameCorners of eye widely separatedHP:0000506
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Vienu tyrimu sužinokite genus, susijusius su Corners of eye widely separated, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test185 genų susiję su Corners of eye widely separated
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Corners of eye widely separated. 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Visada | 1 ligoje |
| AGO1argonaute RISC component 1 | Visada | 1 ligoje |
| ALX4ALX homeobox 4 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ANKHANKH inorganic pyrophosphate transport regulator | Visada | 2 ligose |
| BRD4bromodomain containing 4 | Visada | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Visada | 2 ligose |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| FOXL2forkhead box L2 | Visada | 2 ligose |
| GPRASP2G protein-coupled receptor associated sorting protein 2 | Visada | 1 ligoje |
| H1-4H1.4 linker histone, cluster member | Visada | 1 ligoje |
| IFT122intraflagellar transport 122 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IFT52intraflagellar transport 52 | Visada | 1 ligoje |
| IRX5iroquois homeobox 5 | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KITLGKIT ligand | Visada | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| MID1midline 1 | Visada | 2 ligose |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 1 ligoje |
| PAX3paired box 3 | Visada | 5 ligose |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PLCB4phospholipase C beta 4 | Visada | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Visada | 2 ligose |
| UBE3Bubiquitin protein ligase E3B | Visada | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Visada | 2 ligose |
| WDR35WD repeat domain 35 | Visada | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Visada | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Visada | 2 ligose |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| ARVCFARVCF delta catenin family member | Labai dažnai (80–99%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 145 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BRPF1bromodomain and PHD finger containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 2 ligose |
| GP1BBglycoprotein Ib platelet subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| HHAThedgehog acyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Labai dažnai (80–99%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Labai dažnai (80–99%) | 1 ligoje |
| SETD5SET domain containing 5 | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| SOX10SRY-box transcription factor 10 | Labai dažnai (80–99%) | 3 ligose |
| TBX1T-box transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Labai dažnai (80–99%) | 2 ligose |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Labai dažnai (80–99%) | 1 ligoje |
| XPO1exportin 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Dažnai (30–79%) | 1 ligoje |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Dažnai (30–79%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Dažnai (30–79%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Dažnai (30–79%) | 2 ligose |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 2 ligose |
| ATRXATRX chromatin remodeler | Dažnai (30–79%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| CCND2cyclin D2 | Dažnai (30–79%) | 1 ligoje |
| CCNQcyclin Q | Dažnai (30–79%) | 2 ligose |
| CDK10cyclin dependent kinase 10 | Dažnai (30–79%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Dažnai (30–79%) | 1 ligoje |
| COLEC11collectin subfamily member 11 | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 2 ligose |
| DOCK7dedicator of cytokinesis 7 | Dažnai (30–79%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 1 ligoje |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Dažnai (30–79%) | 2 ligose |
| FLNAfilamin A | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 3 ligose |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Dažnai (30–79%) | 2 ligose |
| LIG4DNA ligase 4 | Dažnai (30–79%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Dažnai (30–79%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Dažnai (30–79%) | 1 ligoje |
| MASP1MBL associated serine protease 1 | Dažnai (30–79%) | 2 ligose |
| MSL3MSL complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 2 ligose |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 2 ligose |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 2 ligose |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Dažnai (30–79%) | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PURApurine rich element binding protein A | Dažnai (30–79%) | 3 ligose |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 2 ligose |
| TRAF7TNF receptor associated factor 7 | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ACBD6acyl-CoA binding domain containing 6 | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| DDB1damage specific DNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| EDN3endothelin 3 | Kartais (5–29%) | 1 ligoje |
| EDNRBendothelin receptor type B | Kartais (5–29%) | 2 ligose |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| FLNBfilamin B | Kartais (5–29%) | 1 ligoje |
| FOXC1forkhead box C1 | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| KAT8lysine acetyltransferase 8 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MITFmelanocyte inducing transcription factor | Kartais (5–29%) | 2 ligose |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 2 ligose |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 2 ligose |
| PITX2paired like homeodomain 2 | Kartais (5–29%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| PTCH2patched 2 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RNF125ring finger protein 125 | Kartais (5–29%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SNAI2snail family transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| SNX14sorting nexin 14 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TYRtyrosinase | Kartais (5–29%) | 1 ligoje |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 2 ligose |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| ZNF148zinc finger protein 148 | Kartais (5–29%) | 1 ligoje |
| AFG2BAAA ATPase AFG2B | Retai (1–4 %) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Retai (1–4 %) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| ARL3ARF like GTPase 3 | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| DDHD2DDHD domain containing 2 | Neužfiksuota | 1 ligoje |
| EFNB1ephrin B1 | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| HDAC8histone deacetylase 8 | Neužfiksuota | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| TLK2tousled like kinase 2 | 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
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- 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.
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites