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Von Hippel-Lindau disease
rareAn 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.
- Identifiers
- MONDO:0008667 OMIM:193300Orphanet:892
- Also known as
- cerebroretinal angiomatosis · familial cerebelloretinal angiomatosis · Lindau disease · VHL · VHL syndrome
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