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	Cât de frecvent apare
Abnormality of the cerebral blood vessels	Foarte des (80–99%)
Absence of lymph node germinal center	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Aneurysm	Des (30–79%)
Peripheral arteriovenous fistula	Des (30–79%)
Small lymph nodes	Des (30–79%)
Varicose veins	Des (30–79%)
Fluid around heart	Uneori (5–29%)
Vein of Galen aneurysmal malformation	Rar (1–4%)
Spider veins	Neînregistrat

Laboratory abnormality

Trait	Cât de frecvent apare
Swelling caused by excess lymph fluid under skin	Întotdeauna
Chylothorax	Des (30–79%)
Fluid around lungs	Des (30–79%)
Nonimmune hydrops fetalis	Des (30–79%)
Predominantly lower limb lymphedema	Des (30–79%)
Edema of the dorsum of hands	Uneori (5–29%)
Laryngeal edema	Uneori (5–29%)
Peripheral edema	Uneori (5–29%)
Excess fluid in lungs	Neînregistrat
Fluid retention	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Capillary malformation	Întotdeauna
Atypical scarring of skin	Des (30–79%)
Cobblestone-like hyperkeratosis	Des (30–79%)
Skin dimple	Des (30–79%)
Skin erosion	Des (30–79%)
Open skin sore	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Facial puffiness	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Periorbital edema	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Accumulation of fluid in the abdomen	Uneori (5–29%)
Abdominal bloating	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent bacterial skin infections	Des (30–79%)
Recurrent skin infections	Des (30–79%)

Abnormal tissue mass

Trait	Cât de frecvent apare
Angiosarcoma	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Des (30–79%)

Abnormality of limbs

Trait	Cât de frecvent apare
Fluid accumulation in lower limbs	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Bacterial infection of skin	Des (30–79%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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