Traits

Traits linked to ACVRL1

activin A receptor like type 1

The Human Phenotype Ontology links 57 traits to ACVRL1, 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
Facial telangiectasia	Very often (80–99%)
Mucosal telangiectasiae	Very often (80–99%)
Spider veins	Very often (80–99%)
Telangiectasia of the skin	Very often (80–99%)
Abnormal cardiovascular system physiology	Often (30–79%)
Arteriovenous malformation	Often (30–79%)
Hepatic arteriovenous malformation	Often (30–79%)
Portal hypertension	Often (30–79%)
Pulmonary arteriovenous malformation	Often (30–79%)
Small, enlarged blood vessels near skin	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%)
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%)
Mini stroke	Sometimes (5–29%)
Peripheral arteriovenous fistula	Sometimes (5–29%)
Retinal telangiectasia	Sometimes (5–29%)
Gastrointestinal angiodysplasia	Not recorded
High blood pressure	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
Spinal arteriovenous malformation	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Recurring nosebleed	Always
Bloody nose	Very often (80–99%)
Black feces	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Bleeding in brain	Sometimes (5–29%)
Blood clot in vein	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)
Increased red blood cells	Not recorded
Rectal bleeding	Not recorded
Vomiting blood	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%)
Spider veins of the mouth	Often (30–79%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Sometimes (5–29%)
Palatal spider veins	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged vein in esophagus	Sometimes (5–29%)
Growths in inner lining of intestine	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Palmar telangiectasia	Very often (80–99%)
Clubbing of fingers and toes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Migraine	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Coughing up blood	Sometimes (5–29%)
Breathing difficulty	Not recorded

Abnormality of the eye

Trait	How often it is seen
Choriocapillaris atrophy	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Brain abscess	Not recorded

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Not recorded

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 ACVRL1 and how often each is seen. Find out more at hpo.jax.org.

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