Traits

Traits linked to EPAS1

endothelial PAS domain protein 1

The Human Phenotype Ontology links 53 traits to EPAS1, 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
Decrease in blood pressure upon standing up	Often (30–79%)
Fainting spell	Often (30–79%)
High blood pressure	Often (30–79%)
Hypertension associated with pheochromocytoma	Often (30–79%)
Hypertensive retinopathy	Often (30–79%)
Palpitations	Often (30–79%)
Positive regitine blocking test	Often (30–79%)
Sinus tachycardia	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Hypertensive crisis	Sometimes (5–29%)
Inflammation of heart muscle	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated urinary dopamine	Often (30–79%)
Elevated urinary epinephrine level	Often (30–79%)
Elevated urinary norepinephrine level	Often (30–79%)
High blood calcium levels	Often (30–79%)
High urine protein levels	Often (30–79%)
Blood in urine	Sometimes (5–29%)
High blood sugar	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in a deep vein	Always
Increased circulating hemoglobin concentration	Always
Increased hematocrit	Always
Increased red blood cells	Always
Bleeding in brain	Often (30–79%)
Mesenteric venous thrombosis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Episodic paroxysmal anxiety	Often (30–79%)
Recurrent paroxysmal headache	Often (30–79%)
Cranial nerve compression	Sometimes (5–29%)
Inability to move vocal cords	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating erythropoietin concentration	Always
Adrenal pheochromocytoma	Very often (80–99%)
Extraadrenal pheochromocytoma	Very often (80–99%)
Paraganglioma	Very often (80–99%)
Paraganglioma of head and neck	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Intermittent abdominal pain	Often (30–79%)
Nausea	Often (30–79%)
Abdominal mass	Sometimes (5–29%)
Constipation	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Itching	Often (30–79%)
Sporadic excessive sweating	Often (30–79%)
Paleness	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Paroxysmal vertigo	Often (30–79%)
Pulsatile tinnitus	Often (30–79%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Glomerular sclerosis	Often (30–79%)
Renal failure	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Fatigue	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)

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 EPAS1 and how often each is seen. Find out more at hpo.jax.org.

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