von Hippel-Lindau Disease

An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.

Also Known As:

von Hippel Lindau Disease; von Hippel-Lindau Syndrome; Cerebelloretinal Angiomatosis, Familial; Angiomatosis Retinae; Familial Cerebello-Retinal Angiomatosis; Hippel-Lindau Disease; Lindau's Disease; VHL Syndrome; Angiomatoses, Familial Cerebello-Retinal; Angiomatoses, Familial Cerebelloretinal; Angiomatosis, Familial Cerebello-Retinal; Angiomatosis, Familial Cerebelloretinal; Cerebello-Retinal Angiomatoses, Familial; Cerebello-Retinal Angiomatosis, Familial; Cerebelloretinal Angiomatoses, Familial; Familial Cerebello Retinal Angiomatosis; Familial Cerebello-Retinal Angiomatoses; Familial Cerebelloretinal Angiomatoses; Familial Cerebelloretinal Angiomatosis; Hippel Lindau Disease; Lindau's Diseases; Lindaus Disease; VHL Syndromes; von Hippel Lindau Syndrome; Lindau Disease

Nervous System Diseases: 14737
- Neurocutaneous Syndromes: 269
  - von Hippel-Lindau Disease: 692
Cardiovascular Diseases: 94258
- Vascular Diseases: 15340
  - Angiomatosis: 251
    - von Hippel-Lindau Disease: 692
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Ciliopathies: 632
      - von Hippel-Lindau Disease: 692
- Inborn Genetic Diseases: 12342
  - Ciliopathies: 632
    - von Hippel-Lindau Disease: 692

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