Trait

Enlarged cornea

Clinical name: 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.

HPO HP:0000485

Also called: Anterior megalophthalmos, Increased corneal diameter, Macrocornea
Body system: Abnormality of the eye

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56 genes linked to Enlarged cornea

Changes in these genes cause rare conditions in which Enlarged cornea is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
ANTXR1ANTXR cell adhesion molecule 1	Always	In 1 condition
CHRDL1chordin like 1	Always	In 1 condition
KDM2Blysine demethylase 2B	Always	In 1 condition
FBN1fibrillin 1	Very often (80–99%)	In 1 condition
FGFR2fibroblast growth factor receptor 2	Very often (80–99%)	In 1 condition
SH3PXD2BSH3 and PX domains 2B	Very often (80–99%)	In 1 condition
CDH11cadherin 11	Often (30–79%)	In 1 condition
CYP1B1cytochrome P450 family 1 subfamily B member 1	Often (30–79%)	In 1 condition
LTBP2latent transforming growth factor beta binding protein 2	Often (30–79%)	In 1 condition
MYOCmyocilin	Often (30–79%)	In 1 condition
PIK3R1phosphoinositide-3-kinase regulatory subunit 1	Often (30–79%)	In 2 conditions
TEKTEK receptor tyrosine kinase	Often (30–79%)	In 2 conditions
BAZ1Bbromodomain adjacent to zinc finger domain 1B	Sometimes (5–29%)	In 1 condition
BUD23BUD23 rRNA methyltransferase and ribosome maturation factor	Sometimes (5–29%)	In 1 condition
CLIP2CAP-Gly domain containing linker protein 2	Sometimes (5–29%)	In 1 condition
CPLX1complexin 1	Sometimes (5–29%)	In 1 condition
CTBP1C-terminal binding protein 1	Sometimes (5–29%)	In 1 condition
DNAJC30DnaJ heat shock protein family (Hsp40) member C30	Sometimes (5–29%)	In 1 condition
EIF4Heukaryotic translation initiation factor 4H	Sometimes (5–29%)	In 1 condition
ELNelastin	Sometimes (5–29%)	In 1 condition
FGD1FYVE, RhoGEF and PH domain containing 1	Sometimes (5–29%)	In 1 condition
FKBP6FKBP prolyl isomerase family member 6 (inactive)	Sometimes (5–29%)	In 1 condition
FKRPfukutin related protein	Sometimes (5–29%)	In 2 conditions
GMPPBGDP-mannose pyrophosphorylase B	Sometimes (5–29%)	In 1 condition
GTF2Igeneral transcription factor IIi	Sometimes (5–29%)	In 1 condition
GTF2IRD1GTF2I repeat domain containing 1	Sometimes (5–29%)	In 1 condition
GTF2IRD2GTF2I repeat domain containing 2	Sometimes (5–29%)	In 1 condition
KCNMA1potassium calcium-activated channel subfamily M alpha 1	Sometimes (5–29%)	In 1 condition
KIFBPkinesin family binding protein	Sometimes (5–29%)	In 1 condition
LETM1leucine zipper and EF-hand containing transmembrane protein 1	Sometimes (5–29%)	In 1 condition
LIMK1LIM domain kinase 1	Sometimes (5–29%)	In 1 condition
MAFMAF bZIP transcription factor	Sometimes (5–29%)	In 1 condition
METTL27methyltransferase like 27	Sometimes (5–29%)	In 1 condition
NCF1neutrophil cytosolic factor 1	Sometimes (5–29%)	In 1 condition
NELFAnegative elongation factor complex member A	Sometimes (5–29%)	In 1 condition
NSD2nuclear receptor binding SET domain protein 2	Sometimes (5–29%)	In 1 condition
PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	Sometimes (5–29%)	In 1 condition
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Sometimes (5–29%)	In 2 conditions
POMKprotein O-mannose kinase	Sometimes (5–29%)	In 1 condition
POMT1protein O-mannosyltransferase 1	Sometimes (5–29%)	In 2 conditions

Show 16 more genes

Gene	How often it is seen	Conditions
POMT2protein O-mannosyltransferase 2	Sometimes (5–29%)	In 2 conditions
PPP2CAprotein phosphatase 2 catalytic subunit alpha	Sometimes (5–29%)	In 1 condition
RFC2replication factor C subunit 2	Sometimes (5–29%)	In 1 condition
STX1Asyntaxin 1A	Sometimes (5–29%)	In 1 condition
TBL2transducin beta like 2	Sometimes (5–29%)	In 1 condition
TMEM270transmembrane protein 270	Sometimes (5–29%)	In 1 condition
VPS37DVPS37D subunit of ESCRT-I	Sometimes (5–29%)	In 1 condition
MT-CYBmitochondrially encoded cytochrome b	Rarely (1–4%)	In 1 condition
PRDM5PR/SET domain 5	Rarely (1–4%)	In 1 condition
ZNF469zinc finger protein 469	Rarely (1–4%)	In 1 condition
COL11A1collagen type XI alpha 1 chain	Not recorded	In 1 condition
FKTNfukutin	Not recorded	In 1 condition
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Not recorded	In 1 condition
LARGE1LARGE xylosyl- and glucuronyltransferase 1	Not recorded	In 1 condition
PITX2paired like homeodomain 2	Not recorded	In 1 condition
TINF2TERF1 interacting nuclear factor 2	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of corneal size

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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