Difference between revisions of "Von Hippel-Lindau disease"

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==References==
==References==
{{reflist|2}}
{{reflist|2}}
==External links==
*[http://www.vhl.org/wordpress/medical-professionals/when-to-suspect-vhl/ When to suspect VHL (vhl.org)].


[[Category:Syndromes]]
[[Category:Syndromes]]

Revision as of 19:11, 7 August 2014

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.[6]

Pancreatic neuroendocrine tumour

  • AKA pancreatic islet cell tumour

In VHL these have distinct morphology:

Trivia

VHL gene is found on chromosome 3.[8]

See also

References

  1. URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
  2. Charlesworth, M.; Verbeke, CS.; Falk, GA.; Walsh, M.; Smith, AM.; Morris-Stiff, G. (Feb 2012). "Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature.". J Gastrointest Surg. doi:10.1007/s11605-012-1847-0. PMID 22370733.
  3. 3.0 3.1 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.
  4. 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.
  5. 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/.
  6. Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.
  7. 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.
  8. Online 'Mendelian Inheritance in Man' (OMIM) 608537

External links