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Trait

Megalopapilla

A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.

HPO HP:0034302

Summary

Body system
Abnormality of the eye

2 condition reports read genes linked to this trait

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1 gene linked to Megalopapilla

Changes in these genes cause rare conditions in which Megalopapilla 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
CSPP1centrosome and spindle pole associated protein 1Sometimes (5–29%)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

Abnormal optic disc 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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