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Nervous System Diseases > Neurocutaneous Syndromes > von Hippel-Lindau Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Neurocutaneous Syndromes > von Hippel-Lindau Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > von Hippel-Lindau Disease
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > von Hippel-Lindau Disease
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > von Hippel-Lindau Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > von Hippel-Lindau Disease
Cardiovascular Diseases > Vascular Diseases > Angiomatosis > von Hippel-Lindau Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Ciliopathies > von Hippel-Lindau Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ciliopathies > von Hippel-Lindau Disease

Preferred term

von Hippel-Lindau Disease  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

  • Angiomatosis Retinae
  • Cerebelloretinal Angiomatosis, Familial
  • Familial Cerebello-Retinal Angiomatosis
  • Hippel-Lindau Disease
  • Lindau Disease
  • Lindau's Disease
  • VHL Syndrome
  • von Hippel-Lindau Syndrome

Allowable Qualifier(s)

In other languages

  • Maladie de von Hippel-Lindau

    French

  • Angiomatose cérébello-rétinienne de von Hippel-Lindau
  • Angiomatose cérébellorétinienne de von Hippel-Lindau
  • Angiomatose cérébellorétinienne familiale
  • Angiomatose rétino-cérébelleuse de von Hippel-Lindau
  • Angiomatose rétinocérébelleuse de von Hippel-Lindau
  • Maladie de Lindau
  • Syndrome de VHL
  • Syndrome de von Hippel-Lindau

URI

http://data.loterre.fr/ark:/67375/JVR-XP9XZV7W-T

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