Trait

Hypoplastic areola

Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.

HPO HP:0100853

Also called: Hypoplastic areolae
Body system: Abnormality of the breast

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3 genes linked to Hypoplastic areola

Changes in these genes cause rare conditions in which Hypoplastic areola 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.

Gene	How often it is seen	Conditions
PTPRFprotein tyrosine phosphatase receptor type F	Often (30–79%)	In 1 condition
LEF1lymphoid enhancer binding factor 1	Sometimes (5–29%)	In 1 condition
TBL1XR1TBL1X/Y related 1	Not recorded	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 areolar 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 2026.10.16-c6eea6bf.

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