Trait

Absent breast

Clinical name: Breast aplasia

Failure to develop and congenital absence of the breast.

HPO HP:0100783

Also called: Congenital absence of breast, Mammary gland aplasia
Body system: Abnormality of the breast

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17 genes linked to Absent breast

Changes in these genes cause rare conditions in which Absent breast 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
ESR1estrogen receptor 1	Always	In 1 condition
KCTD1potassium channel tetramerization domain containing 1	Very often (80–99%)	In 2 conditions
TP63tumor protein p63	Often (30–79%)	In 1 condition
TWIST2twist family bHLH transcription factor 2	Often (30–79%)	In 1 condition
CDC45cell division cycle 45	Sometimes (5–29%)	In 2 conditions
CDC6cell division cycle 6	Sometimes (5–29%)	In 1 condition
CDT1chromatin licensing and DNA replication factor 1	Sometimes (5–29%)	In 1 condition
GMNNgeminin DNA replication inhibitor	Sometimes (5–29%)	In 1 condition
LMNAlamin A/C	Sometimes (5–29%)	In 1 condition
ORC1origin recognition complex subunit 1	Sometimes (5–29%)	In 1 condition
ORC4origin recognition complex subunit 4	Sometimes (5–29%)	In 1 condition
ORC6origin recognition complex subunit 6	Sometimes (5–29%)	In 1 condition
PLXND1plexin D1	Sometimes (5–29%)	In 1 condition
REV3LREV3 like, DNA directed polymerase zeta catalytic subunit	Sometimes (5–29%)	In 1 condition
TBX3T-box transcription factor 3	Sometimes (5–29%)	In 1 condition
DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A	Rarely (1–4%)	In 1 condition
IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma	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

Absent/small breasts

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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