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

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Recurring nosebleed	Alltid
Bleeding tendency	Svært ofte (80–99 %)
Bloody nose	Svært ofte (80–99 %)
Low number of red blood cells or hemoglobin	Ofte (30–79 %)
Rectal bleeding	Ofte (30–79 %)
Bleeding in brain	Noen ganger (5–29 %)
Bleeding within the skull	Noen ganger (5–29 %)
Blood clot in vein	Noen ganger (5–29 %)
Gastrointestinal bleeding	Noen ganger (5–29 %)
Subarachnoid hemorrhage	Noen ganger (5–29 %)
Black feces	Ikke registrert
Increased red blood cells	Ikke registrert
Pulmonary hemorrhage	Ikke registrert
Vomiting blood	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Adenomatous colonic polyposis	Ofte (30–79 %)
Rectal polyposis	Ofte (30–79 %)
Enlarged vein in esophagus	Noen ganger (5–29 %)
Growths in inner lining of intestine	Noen ganger (5–29 %)
Liver failure	Noen ganger (5–29 %)
Multiple gastric polyps	Noen ganger (5–29 %)
Scar tissue replaces healthy tissue in the liver	Noen ganger (5–29 %)
Duodenal polyposis	Sjelden (1–4%)
Small intestinal polyposis	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Breathing difficulty	Alltid
Coughing up blood	Alltid
Reduced FEV1/FVC ratio	Noen ganger (5–29 %)
Stiff lung or chest wall causing decreased lung volume	Noen ganger (5–29 %)
Exertional breathlessness	Ikke registrert
Hemothorax	Ikke registrert
Low blood oxygen level	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Spider veins of mucosa of nose	Svært ofte (80–99 %)
Spider veins of the lip	Svært ofte (80–99 %)
Spider veins of the tongue	Svært ofte (80–99 %)
Small dilated blood vessels near membrane covering front of eye and eyelids	Noen ganger (5–29 %)
Palatal spider veins	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Abnormal shape of brainstem	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Migraine	Ofte (30–79 %)
Weakness of one side of body	Ofte (30–79 %)
Encephalomalacia	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Partial loss of field of vision	Ofte (30–79 %)
Oculomotor nerve palsy	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Anemic pallor	Ofte (30–79 %)
Blue discoloration of the skin	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Clubbing of fingers and toes	Ikke registrert

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Brain abscess	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Chest pain	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid retention	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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