Von Hippel–Lindau disease
| Von Hippel–Lindau disease | |
|---|---|
| Other names | Familial cerebello retinal angiomatosis |
| Locations of the main types of cysts and tumors in Von Hippel–Lindau disease. | |
| Specialty | Medical genetics, neurology |
| Frequency | 0.0021322% |
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by polycystic disease and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.