Von Hippel Lindau syndrome

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

Hippel Lindau syndrome

Broader Terms

brain neoplasm, eye neoplasm, genetic disorder, syndrome

Related Terms

autosomal dominant trait

Scope Note

autosomal dominant disorder associated with cerebellar and retinal neoplasms; the most common manifestations are neurologic deficits associated with intracranial hemangioblastomas which may hemorrhage, causing ataxia, intracranial hypertension, and other signs of neurologic dysfunction.

Facts (generated by robot; please edit if you find it inaccurate)

• Von Hippel-Lindau syndrome is a rare genetic disorder characterized by an increased risk of developing the tumors listed below: Hemangioblastomas (benign, or noncancerous, tumors made up of nests of blood vessels) of the brain and spine.
• The von Hippel-Lindau syndrome is characterised by germ-line inactivating mutation whereas sporadic renal carcinoma is associated with somatic mutations.
• Link to NCBI page VON HIPPEL-LINDAU SYNDROME VON HIPPEL-LINDAU SYNDROME is an inherited multi-system disorder characterized by abnormal growth of blood vessels.
• printer friendly VON HIPPEL-LINDAU SYNDROME 19d home how we can help medical information index of conditions about the directory internet medical info.
• Medline 95278911 Von Hippel-Lindau syndrome (REVIEW) Neumann HP, Lips CJ, Hsia YE, Zbar B Brain Pathol 1995; 5: 181-193.

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