Home > Von Hippel-Lindau disease

1 Features

Features of VHL are:

• angiomatosis - little knots of capillaries in various organs
• hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum). These tumors, whether benign (usual) or malignant (rarer), may cause problems, for example angiomas in the brain or spinal cord may press on nerve or brain tissue. As an angioma grows, the walls of the blood vessels may weaken and leak, causing damage to surrounding tissues. Blood leakage from angiomas in the retina can interfere with vision. Cysts may also grow around angiomas.
• pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines
• renal cell carcinoma - in some forms

2 Types

There are various subtypes (see OMIM):

• Type 1 (angiomatosis without pheochromocytoma)
• Type 2 (angiomatosis with pheochromocytoma)
  • Type 2A (with renal cell carcinoma)
  • Type 2B (without renal cell carcinoma)
  • Type 2C (only pheochromocytoma and no angiomatosis or renal cell carcinoma)

3 Genetics

The disease is caused by mutations of the VHL gene on the short arm of the third chromosome (3p26-p25). The resultant protein is produced in two forms, an 18 kDa and a 30 kDa protein that functions as a tumor suppressor gene

VHL is an autosomal dominant disorder, but there is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. Untreated, VHL may result in blindness and permanent brain damage, death is usually caused by complications of malign tumors in the brain or kidney.

4 History

Dr. Eugen von Hippel described the angiomas in the eye in 19041904 is a leap year starting on Friday (link will take you to calendar). Events January 7 The distress signal " CQD" is established only to be replaced two years later by " SOS. February 7 A fire in Baltimore, Maryland destroys over 1,500 buildings in 30. Dr. Arvid Lindau described the angiomas of the cerebellum and spine in 1926Centuries: 19th century 20th century 21st century Decades: 1870s 1880s 1890s 1900s 1910s 1920s 1930s 1940s 1950s 1960s 1970s Years: 1921 1922 1923 1924 1925 1926 1927 1928 1929 1930 1931 See also 1926 in aviation 1926 in film 1926 in literature 1926 in mu.

5 Nomenclature

Other names are: angiomatosis retinae, angiophakomatosis retinae et cerebelli, familial cerebello-retinal angiomatosis, cerebelloretinal hemangioblastomatosis, Hippel Disease, Hippel-Lindau syndrome, HLS, Lindau disease or retinocerebellar angiomatosis.

6 External links

• OMIM [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= } }] (VHL gene)
• OMIM [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= } }] (Von Hippel-Lindau syndrome)