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Hippel-Lindau disease

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Disease classification WHO
Q85.8 Hippel-Lindau Syndrome

H L syndrome also known as Hippel-Lindau disease, occasionally also called retino-cerebellar angiomatosis, is a rare, hereditary tumor disease from the group of so-called phakomatoses. Patients develop benign, tumor-like tissue changes (angiomas) primarily in the area of the retina of the eye and the cerebellum. The latter has also been referred to as Lindau tumor or Lindau syndrome.[1] The disease was named after the Göttingen ophthalmologist Eugen von Hippel (1867-1939) and the Swedish pathologist Arvid Lindau (1892-1958). Von Hippel first described angiomas of the eye in 1904, Lindau angiomas in the spinal cord in 1926 [2]

VHL protein

References

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