Traits

Traits linked to EPHB4

EPH receptor B4

The Human Phenotype Ontology links 38 traits to EPHB4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cerebral blood vessels	Very often (80–99%)
Absence of lymph node germinal center	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Aneurysm	Often (30–79%)
Peripheral arteriovenous fistula	Often (30–79%)
Small lymph nodes	Often (30–79%)
Varicose veins	Often (30–79%)
Fluid around heart	Sometimes (5–29%)
Vein of Galen aneurysmal malformation	Rarely (1–4%)
Spider veins	Not recorded

Laboratory abnormality

Trait	How often it is seen
Swelling caused by excess lymph fluid under skin	Always
Chylothorax	Often (30–79%)
Fluid around lungs	Often (30–79%)
Nonimmune hydrops fetalis	Often (30–79%)
Predominantly lower limb lymphedema	Often (30–79%)
Edema of the dorsum of hands	Sometimes (5–29%)
Laryngeal edema	Sometimes (5–29%)
Peripheral edema	Sometimes (5–29%)
Excess fluid in lungs	Not recorded
Fluid retention	Not recorded

Abnormality of the integument

Trait	How often it is seen
Capillary malformation	Always
Atypical scarring of skin	Often (30–79%)
Cobblestone-like hyperkeratosis	Often (30–79%)
Skin dimple	Often (30–79%)
Skin erosion	Often (30–79%)
Open skin sore	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Facial puffiness	Sometimes (5–29%)
Increased nuchal translucency	Sometimes (5–29%)
Periorbital edema	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Abdominal bloating	Not recorded

Abnormality of the immune system

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

Abnormal tissue mass

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

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Fluid accumulation in lower limbs	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	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 EPHB4 and how often each is seen. Find out more at hpo.jax.org.

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