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Trait

Cholesteatoma

Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.

HPO HP:0009797

Summary

Body system
Abnormality of the earAbnormal tissue mass

13 genes linked to Cholesteatoma

Changes in these genes cause rare conditions in which Cholesteatoma 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
COG1component of oligomeric golgi complex 1Often (30–79%)In 1 condition
NFIXnuclear factor I XOften (30–79%)In 1 condition
DDR2discoidin domain receptor tyrosine kinase 2Sometimes (5–29%)In 1 condition
FOCADfocadhesinSometimes (5–29%)In 1 condition
KDM6Alysine demethylase 6ASometimes (5–29%)In 1 condition
KMT2Dlysine methyltransferase 2DSometimes (5–29%)In 1 condition
NKX2-1NK2 homeobox 1Sometimes (5–29%)In 1 condition
PSMD12proteasome 26S subunit, non-ATPase 12Sometimes (5–29%)In 1 condition
SYKspleen associated tyrosine kinaseSometimes (5–29%)In 1 condition
APC2APC regulator of Wnt signaling pathway 2Rarely (1–4%)In 1 condition
NSD1nuclear receptor binding SET domain protein 1Rarely (1–4%)In 1 condition
EYA1EYA transcriptional coactivator and phosphatase 1Not recordedIn 1 condition
SIX1SIX homeobox 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

Middle ear malformationMiddle ear tumor

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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