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	How often it is seen
Cerebral berry aneurysm	Always
Spider veins	Always
Telangiectasia of the skin	Always
Mucosal telangiectasiae	Very often (80–99%)
Abnormal cardiovascular system physiology	Often (30–79%)
Abnormal circle of Willis morphology	Often (30–79%)
Arteriovenous malformation	Often (30–79%)
Hepatic arteriovenous malformation	Often (30–79%)
High blood pressure	Often (30–79%)
Mini stroke	Often (30–79%)
Narrowing and hardening of arteries	Often (30–79%)
Portal hypertension	Often (30–79%)
Pulmonary arteriovenous malformation	Often (30–79%)
Visceral angiomatosis	Often (30–79%)
Abnormality of the cerebral blood vessels	Sometimes (5–29%)
Blood clot in artery of lung	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Cerebral arteriovenous malformation	Sometimes (5–29%)
Gastrointestinal arteriovenous malformation	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Peripheral arteriovenous fistula	Sometimes (5–29%)
Retinal telangiectasia	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)
Arteriovenous fistulas of celiac and mesenteric vessels	Not recorded
Dilatation of celiac artery	Not recorded
Dilatation of mesenteric artery	Not recorded
Gastrointestinal angiodysplasia	Not recorded
High-output congestive heart failure	Not recorded
Ischemic stroke	Not recorded
Nail bed telangiectasia	Not recorded
Right-to-left shunt	Not recorded
Small dilated blood vessels in fingerpads	Not recorded
Small, enlarged blood vessels near skin	Not recorded
Spinal arteriovenous malformation	Not recorded
Venous varicosities of celiac and mesenteric vessels	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Recurring nosebleed	Always
Bleeding tendency	Very often (80–99%)
Bloody nose	Very often (80–99%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Rectal bleeding	Often (30–79%)
Bleeding in brain	Sometimes (5–29%)
Bleeding within the skull	Sometimes (5–29%)
Blood clot in vein	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)
Black feces	Not recorded
Increased red blood cells	Not recorded
Pulmonary hemorrhage	Not recorded
Vomiting blood	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Adenomatous colonic polyposis	Often (30–79%)
Rectal polyposis	Often (30–79%)
Enlarged vein in esophagus	Sometimes (5–29%)
Growths in inner lining of intestine	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)
Multiple gastric polyps	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Duodenal polyposis	Rarely (1–4%)
Small intestinal polyposis	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Always
Coughing up blood	Always
Reduced FEV1/FVC ratio	Sometimes (5–29%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)
Exertional breathlessness	Not recorded
Hemothorax	Not recorded
Low blood oxygen level	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Spider veins of mucosa of nose	Very often (80–99%)
Spider veins of the lip	Very often (80–99%)
Spider veins of the tongue	Very often (80–99%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Sometimes (5–29%)
Palatal spider veins	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of brainstem	Often (30–79%)
Epilepsy	Often (30–79%)
Migraine	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Encephalomalacia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Partial loss of field of vision	Often (30–79%)
Oculomotor nerve palsy	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Anemic pallor	Often (30–79%)
Blue discoloration of the skin	Not recorded

Abnormality of limbs

Trait	How often it is seen
Clubbing of fingers and toes	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Brain abscess	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Not recorded

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Fluid retention	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 ENG and how often each is seen. Find out more at hpo.jax.org.

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