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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

TraitKui sageli seda täheldatakse
Increased blood pressure in blood vessels of lungsAlati
Decrease in blood pressure upon standing upSageli (30–79%)
Fainting spellSageli (30–79%)
High blood pressureSageli (30–79%)
Hypertension associated with pheochromocytomaSageli (30–79%)
Hypertensive retinopathySageli (30–79%)
PalpitationsSageli (30–79%)
Positive regitine blocking testSageli (30–79%)
Sinus tachycardiaSageli (30–79%)
Abnormal heart rateMõnikord (5–29%)
Abnormal left ventricular functionMõnikord (5–29%)
Arachnoid hemangiomatosisMõnikord (5–29%)
Cardiac failureMõnikord (5–29%)
Disease of the heart muscleMõnikord (5–29%)
Hypertensive crisisMõnikord (5–29%)
Inflammation of heart muscleMõnikord (5–29%)
StrokeMõnikord (5–29%)
Heart attackHarva (1–4%)
Elevated heart ratePole registreeritud
Hepatic hemangiomaPole registreeritud
Intermittent high blood pressurePole registreeritud
Low blood pressurePole registreeritud
Narrowing of kidney arteryPole registreeritud
Pulmonary capillary hemangiomatosisPole registreeritud
Strawberry markPole registreeritud
Varicose veinsPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
HeadacheAlati
Cerebellar hemangioblastomaSageli (30–79%)
Episodic paroxysmal anxietySageli (30–79%)
Recurrent paroxysmal headacheSageli (30–79%)
AnxietyMõnikord (5–29%)
Cranial nerve compressionMõnikord (5–29%)
Inability to move vocal cordsMõnikord (5–29%)
Panic attackMõnikord (5–29%)
TremorMõnikord (5–29%)
Rise in pressure inside skullHarva (1–4%)
Spinal hemangioblastomaPole registreeritud

Laboratory abnormality

TraitKui sageli seda täheldatakse
Elevated urinary catecholaminesSageli (30–79%)
Elevated urinary dopamineSageli (30–79%)
Elevated urinary epinephrine levelSageli (30–79%)
Elevated urinary norepinephrine levelSageli (30–79%)
High blood calcium levelsSageli (30–79%)
High urine protein levelsSageli (30–79%)
Blood in urineMõnikord (5–29%)
Elevated calcitoninMõnikord (5–29%)
High blood sugarMõnikord (5–29%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Intermittent abdominal painSageli (30–79%)
NauseaSageli (30–79%)
Abdominal massMõnikord (5–29%)
Abdominal painMõnikord (5–29%)
ConstipationMõnikord (5–29%)
Pancreatic cystsMõnikord (5–29%)
Pancreatic islet cell adenomaMõnikord (5–29%)
Cancer of the pancreasHarva (1–4%)

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Adrenal pheochromocytomaVäga sageli (80–99%)
Extraadrenal pheochromocytomaVäga sageli (80–99%)
ParagangliomaVäga sageli (80–99%)
Elevated circulating erythropoietin concentrationSageli (30–79%)
Paraganglioma of head and neckSageli (30–79%)
Elevated circulating catecholamine levelMõnikord (5–29%)
Pancreatic endocrine tumorMõnikord (5–29%)
PheochromocytomaPole registreeritud

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentVäga sageli (80–99%)
DizzinessSageli (30–79%)
Paroxysmal vertigoSageli (30–79%)
Pulsatile tinnitusSageli (30–79%)
Ringing in earsSageli (30–79%)
Conductive deafnessMõnikord (5–29%)
Endolymphatic sac tumorMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Abnormality of the eyeVäga sageli (80–99%)
Macular edemaMõnikord (5–29%)
PapilledemaMõnikord (5–29%)
Visual lossMõnikord (5–29%)
Absent irisHarva (1–4%)
Retinal detachmentHarva (1–4%)
Clouding of the lens of the eye at birthPole registreeritud

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Increased circulating hemoglobin concentrationAlati
Increased hematocritAlati
Bleeding in brainSageli (30–79%)
Increased red blood cellsHarva (1–4%)
Increased red blood cell massPole registreeritud
Peripheral blood clotPole registreeritud

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Cancer starting in small tubes in kidneysSageli (30–79%)
Glomerular sclerosisSageli (30–79%)
Multiple kidney cystsMõnikord (5–29%)
Papillary cystadenoma of the epididymisMõnikord (5–29%)
Renal failureMõnikord (5–29%)
Epididymal cystHarva (1–4%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
FlushingSageli (30–79%)
Sporadic excessive sweatingSageli (30–79%)
Excessive sweatingMõnikord (5–29%)
PalenessMõnikord (5–29%)
BirthmarkPole registreeritud
PlethoraPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Decreased arm strengthMõnikord (5–29%)
Distal lower limb muscle weaknessMõnikord (5–29%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Back painMõnikord (5–29%)
Limb painMõnikord (5–29%)

Constitutional symptom

TraitKui sageli seda täheldatakse
Chest painSageli (30–79%)
FatigueSageli (30–79%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightAlati
Weight lossSageli (30–79%)

Abnormal tissue mass

TraitKui sageli seda täheldatakse
Abnormal tissue massPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Retinal capillary hemangiomaSageli (30–79%)

Abnormality of the voice

TraitKui sageli seda täheldatakse
Inability to produce voice soundsSageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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