Traits

Traits linked to ITGA6

integrin subunit alpha 6

The Human Phenotype Ontology links 37 traits to ITGA6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Always
Aplasia cutis congenita on trunk or limbs	Always
Focal absence of scalp tissue	Always
Hypoplastic dermoepidermal hemidesmosomes	Always
Lamina lucida cleavage	Always
Absence of part of skin at birth	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)
Pterygium	Sometimes (5–29%)
Absent nails	Not recorded
Atypical nail growth	Not recorded
Axillary pterygium	Not recorded
Fragile skin	Not recorded
Milk spot	Not recorded
Sunken or indented skin due to damage	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Congenital pyloric atresia	Always
Narrowing of the esophagus	Always
Abdominal bloating	Very often (80–99%)
Intestinal atresia	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Extra kidney	Often (30–79%)
Birth defect in which part of esophagus did not develop	Not recorded
Intractable diarrhea	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Urethrovesical occlusion	Always
Absent bladder	Often (30–79%)
Hydronephrosis	Often (30–79%)
Renal dysplasia	Often (30–79%)
Ureterocele	Often (30–79%)
Urethral stricture	Often (30–79%)
Urinary bladder inflammation	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Oral mucosal blisters	Always
Thin dental enamel	Often (30–79%)
Everted eyelid	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent skin infections	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Not recorded

Laboratory abnormality

Trait	How often it is seen
Blood in urine	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 ITGA6 and how often each is seen. Find out more at hpo.jax.org.

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