Traits

Traits linked to ENG

endoglin

The Human Phenotype Ontology links 85 traits to ENG, 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
Cerebral berry aneurysm	Întotdeauna
Spider veins	Întotdeauna
Telangiectasia of the skin	Întotdeauna
Mucosal telangiectasiae	Foarte des (80–99%)
Abnormal cardiovascular system physiology	Des (30–79%)
Abnormal circle of Willis morphology	Des (30–79%)
Arteriovenous malformation	Des (30–79%)
Hepatic arteriovenous malformation	Des (30–79%)
High blood pressure	Des (30–79%)
Mini stroke	Des (30–79%)
Narrowing and hardening of arteries	Des (30–79%)
Portal hypertension	Des (30–79%)
Pulmonary arteriovenous malformation	Des (30–79%)
Visceral angiomatosis	Des (30–79%)
Abnormality of the cerebral blood vessels	Uneori (5–29%)
Blood clot in artery of lung	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Cerebral arteriovenous malformation	Uneori (5–29%)
Gastrointestinal arteriovenous malformation	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Peripheral arteriovenous fistula	Uneori (5–29%)
Retinal telangiectasia	Uneori (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Uneori (5–29%)
Arteriovenous fistulas of celiac and mesenteric vessels	Neînregistrat
Dilatation of celiac artery	Neînregistrat
Dilatation of mesenteric artery	Neînregistrat
Gastrointestinal angiodysplasia	Neînregistrat
High-output congestive heart failure	Neînregistrat
Ischemic stroke	Neînregistrat
Nail bed telangiectasia	Neînregistrat
Right-to-left shunt	Neînregistrat
Small dilated blood vessels in fingerpads	Neînregistrat
Small, enlarged blood vessels near skin	Neînregistrat
Spinal arteriovenous malformation	Neînregistrat
Venous varicosities of celiac and mesenteric vessels	Neînregistrat

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Recurring nosebleed	Întotdeauna
Bleeding tendency	Foarte des (80–99%)
Bloody nose	Foarte des (80–99%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Rectal bleeding	Des (30–79%)
Bleeding in brain	Uneori (5–29%)
Bleeding within the skull	Uneori (5–29%)
Blood clot in vein	Uneori (5–29%)
Gastrointestinal bleeding	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)
Black feces	Neînregistrat
Increased red blood cells	Neînregistrat
Pulmonary hemorrhage	Neînregistrat
Vomiting blood	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Adenomatous colonic polyposis	Des (30–79%)
Rectal polyposis	Des (30–79%)
Enlarged vein in esophagus	Uneori (5–29%)
Growths in inner lining of intestine	Uneori (5–29%)
Liver failure	Uneori (5–29%)
Multiple gastric polyps	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)
Duodenal polyposis	Rar (1–4%)
Small intestinal polyposis	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Breathing difficulty	Întotdeauna
Coughing up blood	Întotdeauna
Reduced FEV1/FVC ratio	Uneori (5–29%)
Stiff lung or chest wall causing decreased lung volume	Uneori (5–29%)
Exertional breathlessness	Neînregistrat
Hemothorax	Neînregistrat
Low blood oxygen level	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Spider veins of mucosa of nose	Foarte des (80–99%)
Spider veins of the lip	Foarte des (80–99%)
Spider veins of the tongue	Foarte des (80–99%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Uneori (5–29%)
Palatal spider veins	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal shape of brainstem	Des (30–79%)
Epilepsy	Des (30–79%)
Migraine	Des (30–79%)
Weakness of one side of body	Des (30–79%)
Encephalomalacia	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Partial loss of field of vision	Des (30–79%)
Oculomotor nerve palsy	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Anemic pallor	Des (30–79%)
Blue discoloration of the skin	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Clubbing of fingers and toes	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Brain abscess	Neînregistrat

Constitutional symptom

Trait	Cât de frecvent apare
Chest pain	Neînregistrat

Growth abnormality

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

Laboratory abnormality

Trait	Cât de frecvent apare
Fluid retention	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 ENG and how often each is seen. Find out more at hpo.jax.org.

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