VHL
HGNC ↗3 article(s) in the watch · Cancer genetics
VHL encodes a protein regulating the cellular hypoxia response (HIF degradation). Its loss of function causes von Hippel-Lindau disease, a multi-tumour predisposition.
Curated publications
Hereditary kidney tumor syndromes: structured evaluation of a questionnaire-based approach.
Hereditary renal tumor predisposition syndromes (VHL, TSC, BHD, HLRCC)
Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.
Von Hippel-Lindau syndrome with hereditary clear cell renal cell carcinoma
Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family.
Von Hippel-Lindau disease type 2 with pediatric pheochromocytoma