" /> Von Hippel Lindau Syndrome - CISMeF





Preferred Label : Von Hippel Lindau Syndrome;

NCIt synonyms : Cerebroretinal Angiomatosis; Von Hippel-Lindau Syndrome (VHL);

NCIt related terms : VHL syndrome; Von Hippel-Lindau Disease; Von Hippel-Lindau Syndrome;

CISMeF acronym : VHL;

NCIt definition : An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004;

Alternative definition : NICHD: An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition is characterized by development of capillary hemangioblastomas of the central nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors (endolymphatic sac tumors).; NCI-GLOSS: A rare inherited disorder in which blood vessels grow abnormally in the eyes, brain, spinal cord, adrenal glands, or other parts of the body. People with von Hippel-Lindau syndrome have a higher risk of developing some types of cancer.;

Codes from synonyms : CDR0000575486; CDR0000045563;

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30/07/2025


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