Rare Diseases Symptoms Automatic Extraction

De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.

[von hippel-lindau disease]

Von Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the VHL gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL. This is the first known case of a sporadic de novo germline mutation of VHL at c.239G>T. Clinicians should continue to consider VHL disease in patients presenting with sporadic CNS HBs, including those without a family history, to confirm or exclude additional VHL-associated visceral lesions.

Diseases presenting "germline mutation" symptom

  • cowden syndrome
  • erythropoietic protoporphyria
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • hirschsprung disease
  • von hippel-lindau disease

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