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

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Recurring nosebleed	항상
Bleeding tendency	매우 자주 (80–99%)
Bloody nose	매우 자주 (80–99%)
Low number of red blood cells or hemoglobin	자주 (30–79%)
Rectal bleeding	자주 (30–79%)
Bleeding in brain	가끔 (5–29%)
Bleeding within the skull	가끔 (5–29%)
Blood clot in vein	가끔 (5–29%)
Gastrointestinal bleeding	가끔 (5–29%)
Subarachnoid hemorrhage	가끔 (5–29%)
Black feces	기록되지 않음
Increased red blood cells	기록되지 않음
Pulmonary hemorrhage	기록되지 않음
Vomiting blood	기록되지 않음

Abnormality of the digestive system

Trait	나타나는 빈도
Adenomatous colonic polyposis	자주 (30–79%)
Rectal polyposis	자주 (30–79%)
Enlarged vein in esophagus	가끔 (5–29%)
Growths in inner lining of intestine	가끔 (5–29%)
Liver failure	가끔 (5–29%)
Multiple gastric polyps	가끔 (5–29%)
Scar tissue replaces healthy tissue in the liver	가끔 (5–29%)
Duodenal polyposis	드물게 (1–4%)
Small intestinal polyposis	드물게 (1–4%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Breathing difficulty	항상
Coughing up blood	항상
Reduced FEV1/FVC ratio	가끔 (5–29%)
Stiff lung or chest wall causing decreased lung volume	가끔 (5–29%)
Exertional breathlessness	기록되지 않음
Hemothorax	기록되지 않음
Low blood oxygen level	기록되지 않음

Abnormality of head or neck

Trait	나타나는 빈도
Spider veins of mucosa of nose	매우 자주 (80–99%)
Spider veins of the lip	매우 자주 (80–99%)
Spider veins of the tongue	매우 자주 (80–99%)
Small dilated blood vessels near membrane covering front of eye and eyelids	가끔 (5–29%)
Palatal spider veins	기록되지 않음

Abnormality of the nervous system

Trait	나타나는 빈도
Abnormal shape of brainstem	자주 (30–79%)
Epilepsy	자주 (30–79%)
Migraine	자주 (30–79%)
Weakness of one side of body	자주 (30–79%)
Encephalomalacia	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Partial loss of field of vision	자주 (30–79%)
Oculomotor nerve palsy	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Anemic pallor	자주 (30–79%)
Blue discoloration of the skin	기록되지 않음

Abnormality of limbs

Trait	나타나는 빈도
Clubbing of fingers and toes	기록되지 않음

Abnormality of the immune system

Trait	나타나는 빈도
Brain abscess	기록되지 않음

Constitutional symptom

Trait	나타나는 빈도
Chest pain	기록되지 않음

Growth abnormality

Trait	나타나는 빈도
Growth delay	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Fluid retention	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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