Von Hippel-Lindau disease

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The von Hippel-Lindau disease, also von Hippel-Lindau syndrome is characterized by (mnemonic: HIPPEL):[1]

Bare bones version:

  • Hippel-Lindau, with H and L as above.

Prevalence

  • 1 in 40,000 live births.[5]

Pancreatic islet cell tumours

In VHL these have distinct morphology:

Trivia

VHL gene is found on chromosome 3.[7]

See also

References

  1. URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
  2. 2.0 2.1 Perry, Arie; Brat, Daniel J. (2010). Practical Surgical Neuropathology: A Diagnostic Approach: A Volume in the Pattern Recognition series (1st ed.). Churchill Livingstone. pp. 440. ISBN 978-0443069826.
  3. Harris AL (2000). "von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy". Oncologist 5 Suppl 1: 32–6. PMID 10804089. http://theoncologist.alphamedpress.org/cgi/content-nw/full/5/suppl_1/32/T1.
  4. Chew, EY. (2005). "Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.". Trans Am Ophthalmol Soc 103: 495-511. PMC 1447586. PMID 17057815. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447586/.
  5. Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.
  6. Musso, C.; Paraf, F.; Petit, B.; Archambeaud-Mouveroux, F.; Valleix, D.; Labrousse, F. (Mar 2000). "[Pancreatic neuroendocrine tumors and von Hippel-Lindau disease].". Ann Pathol 20 (2): 130-3. PMID 10740008.
  7. Online 'Mendelian Inheritance in Man' (OMIM) 608537