Von Hippel-Lindau disease

Definition

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-related von Hippel-Lindau disease, von Hippel-Lindau disease, Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome (VHL), von Hippel-Lindau syndrome, modifier of — per MONDO

Also identified as

• DOID 14175 per MONDO
• ICD9 759.6 per MONDO
• MESH D006623 per MONDO
• NCIT C3105 per MONDO
• OMIM 193300 per MONDO
• Orphanet 892 per MONDO
• SCTID 46659004 per MONDO
• UMLS C0019562 per MONDO

Drugs indicated