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	Hvor ofte den forekommer
Increased blood pressure in blood vessels of lungs	Alltid
Decrease in blood pressure upon standing up	Ofte (30–79 %)
Fainting spell	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Hypertension associated with pheochromocytoma	Ofte (30–79 %)
Hypertensive retinopathy	Ofte (30–79 %)
Palpitations	Ofte (30–79 %)
Positive regitine blocking test	Ofte (30–79 %)
Sinus tachycardia	Ofte (30–79 %)
Abnormal heart rate	Noen ganger (5–29 %)
Abnormal left ventricular function	Noen ganger (5–29 %)
Arachnoid hemangiomatosis	Noen ganger (5–29 %)
Cardiac failure	Noen ganger (5–29 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Hypertensive crisis	Noen ganger (5–29 %)
Inflammation of heart muscle	Noen ganger (5–29 %)
Stroke	Noen ganger (5–29 %)
Heart attack	Sjelden (1–4%)
Elevated heart rate	Ikke registrert
Hepatic hemangioma	Ikke registrert
Intermittent high blood pressure	Ikke registrert
Low blood pressure	Ikke registrert
Narrowing of kidney artery	Ikke registrert
Pulmonary capillary hemangiomatosis	Ikke registrert
Strawberry mark	Ikke registrert
Varicose veins	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Headache	Alltid
Cerebellar hemangioblastoma	Ofte (30–79 %)
Episodic paroxysmal anxiety	Ofte (30–79 %)
Recurrent paroxysmal headache	Ofte (30–79 %)
Anxiety	Noen ganger (5–29 %)
Cranial nerve compression	Noen ganger (5–29 %)
Inability to move vocal cords	Noen ganger (5–29 %)
Panic attack	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)
Rise in pressure inside skull	Sjelden (1–4%)
Spinal hemangioblastoma	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated urinary catecholamines	Ofte (30–79 %)
Elevated urinary dopamine	Ofte (30–79 %)
Elevated urinary epinephrine level	Ofte (30–79 %)
Elevated urinary norepinephrine level	Ofte (30–79 %)
High blood calcium levels	Ofte (30–79 %)
High urine protein levels	Ofte (30–79 %)
Blood in urine	Noen ganger (5–29 %)
Elevated calcitonin	Noen ganger (5–29 %)
High blood sugar	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Intermittent abdominal pain	Ofte (30–79 %)
Nausea	Ofte (30–79 %)
Abdominal mass	Noen ganger (5–29 %)
Abdominal pain	Noen ganger (5–29 %)
Constipation	Noen ganger (5–29 %)
Pancreatic cysts	Noen ganger (5–29 %)
Pancreatic islet cell adenoma	Noen ganger (5–29 %)
Cancer of the pancreas	Sjelden (1–4%)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Adrenal pheochromocytoma	Svært ofte (80–99 %)
Extraadrenal pheochromocytoma	Svært ofte (80–99 %)
Paraganglioma	Svært ofte (80–99 %)
Elevated circulating erythropoietin concentration	Ofte (30–79 %)
Paraganglioma of head and neck	Ofte (30–79 %)
Elevated circulating catecholamine level	Noen ganger (5–29 %)
Pancreatic endocrine tumor	Noen ganger (5–29 %)
Pheochromocytoma	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Svært ofte (80–99 %)
Dizziness	Ofte (30–79 %)
Paroxysmal vertigo	Ofte (30–79 %)
Pulsatile tinnitus	Ofte (30–79 %)
Ringing in ears	Ofte (30–79 %)
Conductive deafness	Noen ganger (5–29 %)
Endolymphatic sac tumor	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of the eye	Svært ofte (80–99 %)
Macular edema	Noen ganger (5–29 %)
Papilledema	Noen ganger (5–29 %)
Visual loss	Noen ganger (5–29 %)
Absent iris	Sjelden (1–4%)
Retinal detachment	Sjelden (1–4%)
Clouding of the lens of the eye at birth	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Increased circulating hemoglobin concentration	Alltid
Increased hematocrit	Alltid
Bleeding in brain	Ofte (30–79 %)
Increased red blood cells	Sjelden (1–4%)
Increased red blood cell mass	Ikke registrert
Peripheral blood clot	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Cancer starting in small tubes in kidneys	Ofte (30–79 %)
Glomerular sclerosis	Ofte (30–79 %)
Multiple kidney cysts	Noen ganger (5–29 %)
Papillary cystadenoma of the epididymis	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)
Epididymal cyst	Sjelden (1–4%)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Flushing	Ofte (30–79 %)
Sporadic excessive sweating	Ofte (30–79 %)
Excessive sweating	Noen ganger (5–29 %)
Paleness	Noen ganger (5–29 %)
Birthmark	Ikke registrert
Plethora	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Decreased arm strength	Noen ganger (5–29 %)
Distal lower limb muscle weakness	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Back pain	Noen ganger (5–29 %)
Limb pain	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Chest pain	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Alltid
Weight loss	Ofte (30–79 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Abnormal tissue mass	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Retinal capillary hemangioma	Ofte (30–79 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Inability to produce voice sounds	Ofte (30–79 %)

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

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