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Trait

Branchial cyst

A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.

HPO HP:0009796

Summary

Also called
Branchial cysts
Body system
Abnormality of head or neck

6 genes linked to Branchial cyst

Changes in these genes cause rare conditions in which Branchial cyst 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
EYA1EYA transcriptional coactivator and phosphatase 1Often (30–79%)In 2 conditions
PUF60poly(U) binding splicing factor 60Often (30–79%)In 2 conditions
RPL10ribosomal protein L10Often (30–79%)In 1 condition
SIX1SIX homeobox 1Often (30–79%)In 3 conditions
SIX5SIX homeobox 5Often (30–79%)In 1 condition
KMT2Dlysine methyltransferase 2DSometimes (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

Branchial anomaly

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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