Von Hippel-Lindau (VHL) syndrome is a rare disorder caused by a mutation in a single gene called the VHL gene. If you have VHL syndrome, you are at greater risk of developing certain tumors. VHL syndrome affects one in 36,000 people. Because VHL syndrome is genetic, there is a chance that your relatives may have the mutation as well.

2024年2月12日 · People with von Hippel-Lindau disease (VHL) have an increased risk of having cancerous and noncancerous tumors that can develop throughout their bodies. Healthcare providers may call this disorder von Hippel-Lindau syndrome. VHL is a rare genetic disorder that happens if you inherit a specific genetic mutation. Treatment is surgery to remove ...

2024年3月28日 · VHL综合征（Von Hippel-Lindau syndrome），是一类VHL基因(位于染色体3p25.3)胚系突变引起的常染色体显性遗传病，以发生在中枢神经系统和视网膜的血管母细胞瘤及透明细胞肾细胞癌、嗜铬细胞瘤、胰腺神经内分泌肿瘤和内淋巴囊肿瘤为特点。

von Hippel-Lindau综合征简称VHL综合征，又称VHL病，希佩尔-林道综合征、林岛综合征，是 VHL 抑癌基因突变所致常染色体显性遗传病（OMIM 193300）。VHL病患者表现为多器官肿瘤综合征，包括中枢神经系统血管母细胞瘤、视网膜血管母细胞瘤、肾细胞癌或肾囊肿、胰腺 ...

Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. [3] It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation.

2000年5月17日 · Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas.

2022年8月1日 · von Hippel-Lindau disease (vHL) (OMIM number 193300) is caused by a hereditary multi-organ tumour predisposition, usually related to heterozygosity for a variant in the tumour suppressor gene VHL located on chromosome 3p (Gossage et al., 2015).

Von Hippel-Lindau syndrome (VHL) is a rare genetic disorder that causes an increased risk of certain kinds of cancerous (malignant) and noncancerous (benign) tumors. Two eye doctors—von Hippel in Germany and Lindau in Sweden—were the first to publish descriptions of tumors in patients' eyes and brains, hallmarks of von Hippel-Lindau syndrome.

2023年1月30日 · Von Hippel-Lindau (VHL) syndrome is a hereditary autosomal dominant disease affecting several organ systems. The growth of cysts or tumors characterizes the disease. Tumors can either be benign or malignant. The most characteristic type of tumor in VHL is hemangioblastoma, a benign tumor made of newly formed blood vessels.

2025年1月10日 · Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract. The tumors are usually benign (non-cancerous). But some tumors, such as those in the kidney and pancreas, can become cancerous.