von Hippel-Lindau disease

MeSH: D006623ORPHA: 8921 Treatment Available

Overview

a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems with potential for subsequent malignant change.

Available Treatments (1)

DrugFormStatusCountriesLead Time
Belzutifan
Orphan
Oral tablet, 40mgFDA Approved514d

Clinical Presentation

Signs and symptoms associated with von Hippel-Lindau disease, sourced from HPO and Orphanet clinical annotations.

Abnormality of the eyeHypertensionRenal cell carcinomaAdrenal pheochromocytomaCerebellar hemangioblastomaRetinal capillary hemangiomaElevated urinary catecholamine levelVisual lossAnxietyHyperhidrosisPallorPapilledemaHypertensive retinopathyStrokeCardiomyopathyPancreatic cystsPalpitationsAbdominal painHeadacheVertigoElevated circulating catecholamine levelBack painUpper limb muscle weaknessAbnormal left ventricular functionMultiple renal cystsPancreatic islet cell adenomaDistal lower limb muscle weaknessPapillary cystadenoma of the epididymisLimb painArrhythmiaEndolymphatic sac tumorPancreatic endocrine tumorMacular edemaRetinal detachmentMyocardial infarctionPolycythemiaIncreased intracranial pressureParagangliomaNeoplasm of the pancreasMyocarditisEpididymal cyst

Classification & Codes

MeSH Code

D006623

Orphanet Code

ORPHA:892
von Hippel-Lindau disease
MeSHD006623
OrphanetORPHA:892
Treatments1 drug(s)
Symptoms on record41 signs
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO