Tunnus
Corners of eye widely separated
Kliiniline nimetus: Telecanthus
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Kokkuvõte
- Teised nimetused
- Dystopia canthorum, Increased distance between medial canthi, Increased inner canthal distance, Increased intercanthal distance
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Corners of eye widely separated, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test185 geeni on seotud tunnusega Corners of eye widely separated
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Corners of eye widely separated. 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Alati | Esineb 1 haiguses |
| AGO1argonaute RISC component 1 | Alati | Esineb 1 haiguses |
| ALX4ALX homeobox 4 | Alati | Esineb 2 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| ANKHANKH inorganic pyrophosphate transport regulator | Alati | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Alati | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alati | Esineb 2 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alati | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Alati | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alati | Esineb 1 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| EXOSC1exosome component 1 | Alati | Esineb 1 haiguses |
| FOXL2forkhead box L2 | Alati | Esineb 2 haiguses |
| GPRASP2G protein-coupled receptor associated sorting protein 2 | Alati | Esineb 1 haiguses |
| H1-4H1.4 linker histone, cluster member | Alati | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| IFT52intraflagellar transport 52 | Alati | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Alati | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KITLGKIT ligand | Alati | Esineb 2 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 1 haiguses |
| MID1midline 1 | Alati | Esineb 2 haiguses |
| MYOD1myogenic differentiation 1 | Alati | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 1 haiguses |
| PAX3paired box 3 | Alati | Esineb 5 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alati | Esineb 1 haiguses |
| PLCB4phospholipase C beta 4 | Alati | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 2 haiguses |
| UBE3Bubiquitin protein ligase E3B | Alati | Esineb 2 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alati | Esineb 2 haiguses |
| WDR35WD repeat domain 35 | Alati | Esineb 1 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | Alati | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Alati | Esineb 2 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARVCFARVCF delta catenin family member | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 145 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| BRPF1bromodomain and PHD finger containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| HHAThedgehog acyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOX10SRY-box transcription factor 10 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TBX1T-box transcription factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPO1exportin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Sageli (30–79%) | Esineb 1 haiguses |
| AKT3AKT serine/threonine kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Sageli (30–79%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| CCND2cyclin D2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCNQcyclin Q | Sageli (30–79%) | Esineb 2 haiguses |
| CDK10cyclin dependent kinase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sageli (30–79%) | Esineb 1 haiguses |
| COLEC10collectin subfamily member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| COLEC11collectin subfamily member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| DOCK7dedicator of cytokinesis 7 | Sageli (30–79%) | Esineb 2 haiguses |
| DVL3dishevelled segment polarity protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Sageli (30–79%) | Esineb 1 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Sageli (30–79%) | Esineb 2 haiguses |
| FLNAfilamin A | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 3 haiguses |
| GLI3GLI family zinc finger 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Sageli (30–79%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Sageli (30–79%) | Esineb 2 haiguses |
| LIG4DNA ligase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Sageli (30–79%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MASP1MBL associated serine protease 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MSL3MSL complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 2 haiguses |
| NEK1NIMA related kinase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Sageli (30–79%) | Esineb 1 haiguses |
| PGBD5piggyBac transposable element derived 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Sageli (30–79%) | Esineb 3 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TRAF7TNF receptor associated factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB1damage specific DNA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDN3endothelin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDNRBendothelin receptor type B | Mõnikord (5–29%) | Esineb 2 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNBfilamin B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXC1forkhead box C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KAT8lysine acetyltransferase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MITFmelanocyte inducing transcription factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| OTUD5OTU deubiquitinase 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PITX2paired like homeodomain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH2patched 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF125ring finger protein 125 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNAI2snail family transcriptional repressor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TYRtyrosinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYM2zinc finger MYM-type containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFG2BAAA ATPase AFG2B | Harva (1–4%) | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Harva (1–4%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Pole registreeritud | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Pole registreeritud | Esineb 1 haiguses |
| DDHD2DDHD domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| EFNB1ephrin B1 | Pole registreeritud | Esineb 1 haiguses |
| ETFAelectron transfer flavoprotein subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ETFBelectron transfer flavoprotein subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ETFDHelectron transfer flavoprotein dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Pole registreeritud | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Pole registreeritud | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Pole registreeritud | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Pole registreeritud | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Pole registreeritud | Esineb 1 haiguses |
| TLK2tousled like kinase 2 | 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