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Egenskap
Enlarged cornea
Klinisk navn: 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.
Sammendrag
- Også kalt
- Anterior megalophthalmos, Increased corneal diameter, Macrocornea
- Kroppssystem
- Abnormality of the eye
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/megalocornea.json"
page <- fromJSON(url)
page$trait$nameEnlarged corneaHP:0000485
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Les genene knyttet til Enlarged cornea, og resten av genomet ditt, med én test.
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Få mitt 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 →
Les genene knyttet til Enlarged cornea, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test56 gener knyttet til Enlarged cornea
Endringer i disse genene forårsaker sjeldne tilstander der Enlarged cornea forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ANTXR1ANTXR cell adhesion molecule 1 | Alltid | I 1 tilstand |
| CHRDL1chordin like 1 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Svært ofte (80–99 %) | I 1 tilstand |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MYOCmyocilin | Ofte (30–79 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| TEKTEK receptor tyrosine kinase | Ofte (30–79 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Noen ganger (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 2 tilstander |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
Vis 16 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| POMT2protein O-mannosyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Sjelden (1–4%) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Sjelden (1–4%) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Sjelden (1–4%) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ikke registrert | I 1 tilstand |
| FKTNfukutin | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ikke registrert | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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Read the genes behind these traits in your own DNA.
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