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Trait

Limbal stem cell deficiency

A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.

HPO HP:0032107

Summary

Body system
Abnormality of the eye

10 genes linked to Limbal stem cell deficiency

Changes in these genes cause rare conditions in which Limbal stem cell deficiency 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.

GeneHow often it is seenConditions
FOXC1forkhead box C1Often (30–79%)In 1 condition
GJB2gap junction protein beta 2Often (30–79%)In 1 condition
GJB6gap junction protein beta 6Often (30–79%)In 1 condition
PAX6paired box 6Often (30–79%)In 2 conditions
TRIM44TRIM family member 44Often (30–79%)In 1 condition
FGF10fibroblast growth factor 10Sometimes (5–29%)In 1 condition
FGFR2fibroblast growth factor receptor 2Sometimes (5–29%)In 2 conditions
FGFR3fibroblast growth factor receptor 3Sometimes (5–29%)In 1 condition
DDR2discoidin domain receptor tyrosine kinase 2Not recordedIn 1 condition
NLRP1NLR family pyrin domain containing 1Not recordedIn 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

Abnormal anterior eye segment morphology

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 2026.10.17-8666dff2.

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