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Tunnus
Enlarged cornea
Kliiniline nimetus: Megalocornea
An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.
Kokkuvõte
- Teised nimetused
- Anterior megalophthalmos, Increased corneal diameter, Macrocornea
- Kehasüsteem
- Abnormality of the eye
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/megalocornea.json"
page <- fromJSON(url)
page$trait$nameEnlarged corneaHP:0000485
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Lugege välja geenid, mis on seotud Enlarged cornea-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test38 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Congenital Muscular DystrophiesReads 8 of these genesFKRPGMPPBPOMGNT1POMKPOMT1POMT2About this report →
- GlaucomaReads 4 of these genesCYP1B1LTBP2MYOCTEKAbout this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
Show 34 more reports
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesFKRPGMPPBPIGGPOMGNT1POMT1POMT2About this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesFKRPGMPPBPOMGNT1FKTNAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Hereditary Vascular MalformationsReads 1 of these genesTEKAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesPRDM5ZNF469About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesPITX2About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGGAbout this report →
- Dyskeratosis CongenitaReads 1 of these genesTINF2About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR2About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- VitreoretinopathyReads 1 of these genesCOL11A1About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Epilepsy (Full Panel)Reads 2 of these genesCPLX1KCNMA1About this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Other Inborn Errors of ImmunityReads 2 of these genesPIK3R1NCF1About this report →
- Intellectual DisabilityReads 2 of these genesNSD2PIGGAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Hearing Loss and DeafnessReads 1 of these genesCOL11A1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesLETM1About this report →
Lugege välja geenid, mis on seotud Enlarged cornea-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test56 geeni on seotud tunnusega Enlarged cornea
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Enlarged cornea. 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 |
|---|---|---|
| ANTXR1ANTXR cell adhesion molecule 1 | Alati | Esineb 1 haiguses |
| CHRDL1chordin like 1 | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP2latent transforming growth factor beta binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYOCmyocilin | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TEKTEK receptor tyrosine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | 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 |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Mõnikord (5–29%) | Esineb 2 haiguses |
| POMKprotein O-mannose kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
Näita veel 16 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POMT2protein O-mannosyltransferase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Harva (1–4%) | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Harva (1–4%) | Esineb 1 haiguses |
| ZNF469zinc finger protein 469 | Harva (1–4%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| FKTNfukutin | Pole registreeritud | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Pole registreeritud | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Pole registreeritud | Esineb 1 haiguses |
| TINF2TERF1 interacting nuclear factor 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 2026.10.19-9814e911.
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Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
