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Trait

Megarectum

An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.

HPO HP:0025024

Summary

Body system
Abnormality of the digestive system

2 genes linked to Megarectum

Changes in these genes cause rare conditions in which Megarectum 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
INSRinsulin receptorSometimes (5–29%)In 1 condition
OTUD5OTU deubiquitinase 5Sometimes (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

Abnormality of the rectum

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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