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Article

Von Hippel-Lindau disease.

Annual review of pathology - 1 Jan 2007

Kaelin William G

Abstract excerpt

von Hippel-Lindau disease, which is characterized by an increased risk of hemangioblastomas, clear cell renal carcinomas, and pheochromocytomas, is caused by inactivating mutations of the VHL tumor suppressor gene. The VHL gene product, pVHL, has multiple functions, but the best documented, and the one most clearly linked to tumor development, relates to its role as the substrate recognition module of a ubiquitin...

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Source

Identifiers

PMID: 18039096
DOI: 10.1146/annurev.pathol.2.010506.092049

Genes

VHL
RET
SDHB
SDHC
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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