Traits

Traits linked to VHL

von Hippel-Lindau tumor suppressor

The Human Phenotype Ontology links 105 traits to VHL, 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
Increased blood pressure in blood vessels of lungs	Always
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%)
Abnormal heart rate	Sometimes (5–29%)
Abnormal left ventricular function	Sometimes (5–29%)
Arachnoid hemangiomatosis	Sometimes (5–29%)
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%)
Stroke	Sometimes (5–29%)
Heart attack	Rarely (1–4%)
Elevated heart rate	Not recorded
Hepatic hemangioma	Not recorded
Intermittent high blood pressure	Not recorded
Low blood pressure	Not recorded
Narrowing of kidney artery	Not recorded
Pulmonary capillary hemangiomatosis	Not recorded
Strawberry mark	Not recorded
Varicose veins	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Headache	Always
Cerebellar hemangioblastoma	Often (30–79%)
Episodic paroxysmal anxiety	Often (30–79%)
Recurrent paroxysmal headache	Often (30–79%)
Anxiety	Sometimes (5–29%)
Cranial nerve compression	Sometimes (5–29%)
Inability to move vocal cords	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Rise in pressure inside skull	Rarely (1–4%)
Spinal hemangioblastoma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated urinary catecholamines	Often (30–79%)
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%)
Elevated calcitonin	Sometimes (5–29%)
High blood sugar	Sometimes (5–29%)

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%)
Abdominal pain	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic islet cell adenoma	Sometimes (5–29%)
Cancer of the pancreas	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal pheochromocytoma	Very often (80–99%)
Extraadrenal pheochromocytoma	Very often (80–99%)
Paraganglioma	Very often (80–99%)
Elevated circulating erythropoietin concentration	Often (30–79%)
Paraganglioma of head and neck	Often (30–79%)
Elevated circulating catecholamine level	Sometimes (5–29%)
Pancreatic endocrine tumor	Sometimes (5–29%)
Pheochromocytoma	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)
Dizziness	Often (30–79%)
Paroxysmal vertigo	Often (30–79%)
Pulsatile tinnitus	Often (30–79%)
Ringing in ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Endolymphatic sac tumor	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Very often (80–99%)
Macular edema	Sometimes (5–29%)
Papilledema	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Absent iris	Rarely (1–4%)
Retinal detachment	Rarely (1–4%)
Clouding of the lens of the eye at birth	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Increased circulating hemoglobin concentration	Always
Increased hematocrit	Always
Bleeding in brain	Often (30–79%)
Increased red blood cells	Rarely (1–4%)
Increased red blood cell mass	Not recorded
Peripheral blood clot	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Cancer starting in small tubes in kidneys	Often (30–79%)
Glomerular sclerosis	Often (30–79%)
Multiple kidney cysts	Sometimes (5–29%)
Papillary cystadenoma of the epididymis	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Epididymal cyst	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Sporadic excessive sweating	Often (30–79%)
Excessive sweating	Sometimes (5–29%)
Paleness	Sometimes (5–29%)
Birthmark	Not recorded
Plethora	Not recorded

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Sometimes (5–29%)
Distal lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Back pain	Sometimes (5–29%)
Limb pain	Sometimes (5–29%)

Constitutional symptom

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

Growth abnormality

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

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Retinal capillary hemangioma	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	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 VHL and how often each is seen. Find out more at hpo.jax.org.

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