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Von Hippel-Lindau disease

ORPHA:892 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(1)

  • Abnormality of the eyeHP:0000478

Frequent (79-30%)(6)

  • Adrenal pheochromocytomaHP:0006748
  • Cerebellar hemangioblastomaHP:0006880
  • Elevated urinary catecholamine levelHP:0011976
  • HypertensionHP:0000822
  • Renal cell carcinomaHP:0005584
  • Retinal capillary hemangiomaHP:0009711

Occasional (29-5%)(26)

  • Abdominal painHP:0002027
  • Abnormal left ventricular functionHP:0005162
  • AnxietyHP:0000739
  • ArrhythmiaHP:0011675
  • Back painHP:0003418
  • CardiomyopathyHP:0001638
  • Distal lower limb muscle weaknessHP:0009053
  • Elevated circulating catecholamine levelHP:0003334
  • Endolymphatic sac tumorHP:0030393
  • HeadacheHP:0002315
  • HyperhidrosisHP:0000975
  • Hypertensive retinopathyHP:0001095
  • Limb painHP:0009763
  • Macular edemaHP:0040049
  • Multiple renal cystsHP:0005562
  • PallorHP:0000980
  • PalpitationsHP:0001962
  • Pancreatic cystsHP:0001737
  • Pancreatic endocrine tumorHP:0030405
  • Pancreatic islet cell adenomaHP:0008261
  • Papillary cystadenoma of the epididymisHP:0009715
  • PapilledemaHP:0001085
  • StrokeHP:0001297
  • Upper limb muscle weaknessHP:0003484
  • VertigoHP:0002321
  • Visual lossHP:0000572

Very rare (<4-1%)(8)

  • Epididymal cystHP:0030424
  • Increased intracranial pressureHP:0002516
  • Myocardial infarctionHP:0001658
  • MyocarditisHP:0012819
  • Neoplasm of the pancreasHP:0002894
  • ParagangliomaHP:0002668
  • PolycythemiaHP:0001901
  • Retinal detachmentHP:0000541