Trait

Abnormality of the pupil

Clinical name: Abnormal pupil morphology

An abnormality of the pupil.

HPO HP:0000615

Also called: Pupillary abnormalities, Pupillary abnormality, Abnormal pupillary morphology
Body system: Abnormality of the eye

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20 genes linked to Abnormality of the pupil

Changes in these genes cause rare conditions in which Abnormality of the pupil 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
AP3D1adaptor related protein complex 3 subunit delta 1	Very often (80–99%)	In 1 condition
ELP1elongator acetyltransferase complex subunit 1	Very often (80–99%)	In 1 condition
GPR143G protein-coupled receptor 143	Very often (80–99%)	In 1 condition
OCRLOCRL inositol polyphosphate-5-phosphatase	Very often (80–99%)	In 1 condition
PHOX2Bpaired like homeobox 2B	Very often (80–99%)	In 1 condition
PTENphosphatase and tensin homolog	Very often (80–99%)	In 1 condition
MPZmyelin protein zero	Often (30–79%)	In 1 condition
PIK3R1phosphoinositide-3-kinase regulatory subunit 1	Often (30–79%)	In 1 condition
PMP22peripheral myelin protein 22	Often (30–79%)	In 1 condition
CHN1chimerin 1	Sometimes (5–29%)	In 1 condition
KRT25keratin 25	Sometimes (5–29%)	In 1 condition
KRT71keratin 71	Sometimes (5–29%)	In 1 condition
KRT74keratin 74	Sometimes (5–29%)	In 1 condition
LIPHlipase H	Sometimes (5–29%)	In 1 condition
LPAR6lysophosphatidic acid receptor 6	Sometimes (5–29%)	In 1 condition
MAFBMAF bZIP transcription factor B	Sometimes (5–29%)	In 1 condition
NDPnorrin cystine knot growth factor NDP	Sometimes (5–29%)	In 1 condition
SALL4spalt like transcription factor 4	Sometimes (5–29%)	In 1 condition
STIM1stromal interaction molecule 1	Sometimes (5–29%)	In 1 condition
ZEB2zinc finger E-box binding homeobox 2	Sometimes (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.

Narrower traits

Broader traits

Abnormality of the iris

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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