Tratto
Enlarged cornea
Nome clinico: 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.
Riepilogo
- Detto anche
- Anterior megalophthalmos, Increased corneal diameter, Macrocornea
- Sistema corporeo
- Abnormality of the eye
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Ottieni il mio 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 →
Leggi i geni collegati a Enlarged cornea e il resto del tuo genoma con un unico test.
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Ottieni il mio Genome Test56 geni collegati a Enlarged cornea
Alterazioni in questi geni causano malattie rare in cui si osserva Enlarged cornea. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| ANTXR1ANTXR cell adhesion molecule 1 | Sempre | In 1 condizione |
| CHRDL1chordin like 1 | Sempre | In 1 condizione |
| KDM2Blysine demethylase 2B | Sempre | In 1 condizione |
| FBN1fibrillin 1 | Molto spesso (80–99%) | In 1 condizione |
| FGFR2fibroblast growth factor receptor 2 | Molto spesso (80–99%) | In 1 condizione |
| SH3PXD2BSH3 and PX domains 2B | Molto spesso (80–99%) | In 1 condizione |
| CDH11cadherin 11 | Spesso (30–79%) | In 1 condizione |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Spesso (30–79%) | In 1 condizione |
| LTBP2latent transforming growth factor beta binding protein 2 | Spesso (30–79%) | In 1 condizione |
| MYOCmyocilin | Spesso (30–79%) | In 1 condizione |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Spesso (30–79%) | In 2 condizioni |
| TEKTEK receptor tyrosine kinase | Spesso (30–79%) | In 2 condizioni |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | A volte (5–29%) | In 1 condizione |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | A volte (5–29%) | In 1 condizione |
| CLIP2CAP-Gly domain containing linker protein 2 | A volte (5–29%) | In 1 condizione |
| CPLX1complexin 1 | A volte (5–29%) | In 1 condizione |
| CTBP1C-terminal binding protein 1 | A volte (5–29%) | In 1 condizione |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | A volte (5–29%) | In 1 condizione |
| EIF4Heukaryotic translation initiation factor 4H | A volte (5–29%) | In 1 condizione |
| ELNelastin | A volte (5–29%) | In 1 condizione |
| FGD1FYVE, RhoGEF and PH domain containing 1 | A volte (5–29%) | In 1 condizione |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | A volte (5–29%) | In 1 condizione |
| FKRPfukutin related protein | A volte (5–29%) | In 2 condizioni |
| GMPPBGDP-mannose pyrophosphorylase B | A volte (5–29%) | In 1 condizione |
| GTF2Igeneral transcription factor IIi | A volte (5–29%) | In 1 condizione |
| GTF2IRD1GTF2I repeat domain containing 1 | A volte (5–29%) | In 1 condizione |
| GTF2IRD2GTF2I repeat domain containing 2 | A volte (5–29%) | In 1 condizione |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | A volte (5–29%) | In 1 condizione |
| KIFBPkinesin family binding protein | A volte (5–29%) | In 1 condizione |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | A volte (5–29%) | In 1 condizione |
| LIMK1LIM domain kinase 1 | A volte (5–29%) | In 1 condizione |
| MAFMAF bZIP transcription factor | A volte (5–29%) | In 1 condizione |
| METTL27methyltransferase like 27 | A volte (5–29%) | In 1 condizione |
| NCF1neutrophil cytosolic factor 1 | A volte (5–29%) | In 1 condizione |
| NELFAnegative elongation factor complex member A | A volte (5–29%) | In 1 condizione |
| NSD2nuclear receptor binding SET domain protein 2 | A volte (5–29%) | In 1 condizione |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | A volte (5–29%) | In 1 condizione |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | A volte (5–29%) | In 2 condizioni |
| POMKprotein O-mannose kinase | A volte (5–29%) | In 1 condizione |
| POMT1protein O-mannosyltransferase 1 | A volte (5–29%) | In 2 condizioni |
Mostra altri 16 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| POMT2protein O-mannosyltransferase 2 | A volte (5–29%) | In 2 condizioni |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | A volte (5–29%) | In 1 condizione |
| RFC2replication factor C subunit 2 | A volte (5–29%) | In 1 condizione |
| STX1Asyntaxin 1A | A volte (5–29%) | In 1 condizione |
| TBL2transducin beta like 2 | A volte (5–29%) | In 1 condizione |
| TMEM270transmembrane protein 270 | A volte (5–29%) | In 1 condizione |
| VPS37DVPS37D subunit of ESCRT-I | A volte (5–29%) | In 1 condizione |
| MT-CYBmitochondrially encoded cytochrome b | Raramente (1–4%) | In 1 condizione |
| PRDM5PR/SET domain 5 | Raramente (1–4%) | In 1 condizione |
| ZNF469zinc finger protein 469 | Raramente (1–4%) | In 1 condizione |
| COL11A1collagen type XI alpha 1 chain | Non registrato | In 1 condizione |
| FKTNfukutin | Non registrato | In 1 condizione |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Non registrato | In 1 condizione |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Non registrato | In 1 condizione |
| PITX2paired like homeodomain 2 | Non registrato | In 1 condizione |
| TINF2TERF1 interacting nuclear factor 2 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.19-9814e911.
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