Trait

Constricted pupils

Clinical name: Miosis

Abnormal (non-physiological) constriction of the pupil.

HPO HP:0000616

Also called: Pupillary constriction
Body system: Abnormality of the eye

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19 genes linked to Constricted pupils

Changes in these genes cause rare conditions in which Constricted pupils 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
ITPR1inositol 1,4,5-trisphosphate receptor type 1	Always	In 1 condition
ORAI1ORAI calcium release-activated calcium modulator 1	Always	In 2 conditions
RAB18RAB18, member RAS oncogene family	Always	In 1 condition
STIM1stromal interaction molecule 1	Always	In 2 conditions
COL25A1collagen type XXV alpha 1 chain	Often (30–79%)	In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factor	Often (30–79%)	In 1 condition
HHAThedgehog acyltransferase	Often (30–79%)	In 1 condition
KIF21Akinesin family member 21A	Often (30–79%)	In 1 condition
NOTCH2NLCnotch 2 N-terminal like C	Often (30–79%)	In 2 conditions
PEX7peroxisomal biogenesis factor 7	Often (30–79%)	In 2 conditions
PHOX2Apaired like homeobox 2A	Often (30–79%)	In 1 condition
PHYHphytanoyl-CoA 2-hydroxylase	Often (30–79%)	In 2 conditions
TUBA1Atubulin alpha 1a	Often (30–79%)	In 1 condition
TUBB2Btubulin beta 2B class IIb	Often (30–79%)	In 1 condition
TUBB3tubulin beta 3 class III	Often (30–79%)	In 1 condition
DDCdopa decarboxylase	Sometimes (5–29%)	In 2 conditions
DNMBPdynamin binding protein	Sometimes (5–29%)	In 1 condition
CHRDL1chordin like 1	Not recorded	In 1 condition
SIX6SIX homeobox 6	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.

Narrower traits

Horner syndrome8 genes

Broader traits

Abnormal pupillary function

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 2026.10.17-8666dff2.

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