Traits

Traits linked to ITGAV

integrin subunit alpha V

The Human Phenotype Ontology links 33 traits to ITGAV, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Bilateral polymicrogyria	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Dysplastic corpus callosum	Often (30–79%)
Epilepsy	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Colitis	Always
Colonic eosinophilia	Always
Anoperineal fistula	Often (30–79%)
Anteriorly placed anus	Often (30–79%)
Sclerosing cholangitis	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Baby eczema	Always
Recurrent fungal infections	Always
Food allergy	Often (30–79%)
Recurrent respiratory infections	Often (30–79%)
Recurrent skin infections	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Often (30–79%)
Exudative vitreoretinopathy	Often (30–79%)
Noninflammatory retina disease	Often (30–79%)
Severe near sightedness	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Monoclonal elevated circulating IgE concentration	Always
Decreased circulating IgA concentration	Often (30–79%)
Increased circulating IgG concentration	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Bifid uvula	Often (30–79%)
Small head present at birth	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Always
Hunched back	Often (30–79%)
Low muscle tone	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
High blood eosinophil count	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Patent urachus	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ITGAV and how often each is seen. Find out more at hpo.jax.org.

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