Hereditary tumor syndrome with hemangioblastomas, renal carcinoma and pheochromocytoma.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Endocrine oncology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, retinal hemangioblastomas in childhood
- Gene(s) involved
- VHL
- Alternative names & eponyms
- VHL syndrome
Etiology & mechanism
VHL loss stabilizes HIF and drives angiogenesis.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Von Hippel–Lindau disease may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Abetalipoproteinemia
ataxia
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Angelman syndrome
ataxia
1 shared
Ask–Upmark kidney syndrome
headache
1 shared
BAP1 tumor predisposition syndrome
renal cell carcinoma
1 shared
Barré–Liéou syndrome
headache
1 shared
Brown–Vialetto–Van Laere syndrome
ataxia
1 shared
Cerebral folate deficiency syndrome
ataxia
1 shared
Cerebral hyperperfusion syndrome
headache
Shares genes with
None.
Loading…
Loading…