von Hippel-Lindau disease
Findings
No curated finding names von Hippel-Lindau disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas.
Definition from the Mondo Disease Ontology (MONDO:0008667), read 2026-09-29. CC BY 4.0.
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Sensorineural hearing impairmentHPOHP:0000407
- 34 of 35 reported patients
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- TinnitusHPOHP:0000360
- 27 of 35 reported patients
- VertigoHPOHP:0002321
- 24 of 35 reported patients
- Occasional (5% to 29% of cases)
- Adrenal pheochromocytomaHPOHP:0006748
- Frequent (30% to 79% of cases)
- Cerebellar hemangioblastomaHPOHP:0006880
- Frequent (30% to 79% of cases)
Show the remaining 31
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
- Back painHPOHP:0003418
- Occasional (5% to 29% of cases)
- CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Occasional (5% to 29% of cases)
- Elevated circulating catecholamine levelHPOHP:0003334
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VHLHGNC:12687
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- CCND1HGNC:1582
- Supportive · Orphanet · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: von Hippel-Lindau disease
- Also called
- cerebroretinal angiomatosisfamilial cerebelloretinal angiomatosisLindau diseaseVHLVHL-related von Hippel-Lindau diseaseVon Hippel-Lindau syndromeVon Hippel-Lindau syndrome (VHL)von Hippel-Lindau syndrome, modifier of