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Dictionary » Familial cerebelloretinal angiomatosis
 

Familial cerebelloretinal angiomatosis

Introduction: Familial cerebelloretinal angiomatosis

Description of Familial cerebelloretinal angiomatosis

Familial cerebelloretinal angiomatosis: 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
Source: Diseases Database

Familial cerebelloretinal angiomatosis: Related Topics

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Source: Diseases Database

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