Traits

Traits linked to ITGB4

integrin subunit beta 4

The Human Phenotype Ontology links 82 traits to ITGB4, 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
Detachment of outermost fingernails	Always
Hypoplastic dermoepidermal hemidesmosomes	Always
Lamina lucida cleavage	Always
Poor nail formation	Always
Stratum basale cleavage	Always
Thick nail	Always
Abnormal skin pigmentation	Very often (80–99%)
Absence of part of skin at birth	Very often (80–99%)
Aplasia cutis congenita over the scalp vertex	Very often (80–99%)
Congenital localized absence of skin	Very often (80–99%)
Fragile skin	Very often (80–99%)
Milk spot	Very often (80–99%)
Sparse body hair	Very often (80–99%)
Sunken or indented skin due to damage	Very often (80–99%)
Absent axillary hair	Often (30–79%)
Absent nails	Often (30–79%)
Absent pubic hair	Often (30–79%)
Acral blistering	Often (30–79%)
Atrophic, patchy alopecia	Often (30–79%)
Limited armpit hair	Often (30–79%)
Open skin sore	Often (30–79%)
Skin detachment	Often (30–79%)
Skin erosion	Often (30–79%)
Skin fragility with non-scarring blistering	Often (30–79%)
Sparse pubic hair	Often (30–79%)
Focal absence of scalp tissue	Sometimes (5–29%)
Poor fingernail formation	Sometimes (5–29%)
Poor toenail formation	Sometimes (5–29%)
Pterygium	Sometimes (5–29%)
Atypical scarring of skin	Rarely (1–4%)
Atypical nail growth	Not recorded
Axillary pterygium	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Narrowing of the urethra	Always
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%)
Urinary tract abnormalities	Often (30–79%)
Glomerular sclerosis	Sometimes (5–29%)
Urethra issue	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Early loss of adult teeth	Always
Oral mucosal blisters	Always
Cranial defect	Very often (80–99%)
Hair loss on scalp from scarring condition	Very often (80–99%)
Abnormality of dental color	Often (30–79%)
Dental enamel pits	Often (30–79%)
Thin dental enamel	Often (30–79%)
Bell's palsy	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Congenital pyloric atresia	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%)
Vomiting	Often (30–79%)
Birth defect in which part of esophagus did not develop	Not recorded
Intractable diarrhea	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of bone mineral density	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Muscular dystrophy	Sometimes (5–29%)
Limb contractures	Rarely (1–4%)
Arthrogryposis multiplex congenita	Not recorded

Abnormality of limbs

Trait	How often it is seen
Finger syndactyly	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Thickening of palms and soles	Sometimes (5–29%)
Mitten deformity	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Often (30–79%)
Prolonged bleeding time	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Spinal dysraphism	Very often (80–99%)
Tactile hypersensitivity	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Blood in urine	Often (30–79%)
Elevated blood creatine phosphokinase	Often (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Small ears	Sometimes (5–29%)

Abnormality of the immune system

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

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)

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 ITGB4 and how often each is seen. Find out more at hpo.jax.org.

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