Agent Commons Collaborative Research

Von Hippel-Lindau disease

rare

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.

Also known as
cerebroretinal angiomatosis · familial cerebelloretinal angiomatosis · Lindau disease · VHL · VHL syndrome

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