von Hippel-Lindau Disease: Multimedia

References

1. Turturro F. Beyond the Knudson's hypothesis in von Hippel-Lindau (VHL) disease-proposing vitronectin as a "gene modifier". J Mol Med. Apr 8 2009;[Medline].

2. Krzysztolik K, Cybulski C, Sagan L, Nowacki P, Lubinski J. Endolymphatic sac tumours and von Hippel-Lindau disease - case report, molecular analysis and histopathological characterization. Folia Neuropathol. 2009;47(1):75-80. [Medline].

3. Boedeker CC, Erlic Z, Richard S, et al. Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2. J Clin Endocrinol Metab. Mar 31 2009;[Medline].

4. Israel GM, Francis IR, Baumgarten DA, et al. Indeterminate renal mass. Reston, VA: ACR; 2007.

5. Chan-Smutko G, Plon SE, Iliopoulos O. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate. Available at www.utdol.com/online/content/topic.do?topicKey=brain_ca/15247. Accessed 01/06/2009.

6. Decker HJ, Weidt EJ, Brieger J. The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis. Cancer Genet Cytogenet. Jan 1997;93(1):74-83. [Medline].

7. Huson SM, Rosser EM. Von Hippel-Lindau disease. In: Rimoin DL, Connor JM, Pyeritz RE, Emery AE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3^rd ed. Churchill Livingston; 1996:2290-5.

8. Johns Hopkins University. #193300. OMIM. Available at http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193300. Accessed June 3, 2002.

9. Khan AN, Turnbull I, MacDonald S, Al-Okaili R. Von Hippel-Lindau Syndrome. eMedicine from WebMD. Available at emedicine.medscape.com/article/385704. Accessed January 6, 2009.

10. Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol. Dec 15 2004;22(24):4991-5004. [Medline].

11. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst. Jul 15 1998;90(14):1039-71. [Medline].

12. Maher ER, Kaelin WG Jr. von Hippel-Lindau disease. Medicine (Baltimore). Nov 1997;76(6):381-91. [Medline].

13. Richards FM, Webster AR, McMahon R, et al. Molecular genetic analysis of von Hippel-Lindau disease. J Intern Med. Jun 1998;243(6):527-33. [Medline].

14. Schimke NR, Collins DL, Stolle CA. Von Hippel-Lindau Syndrome. GeneReviews. Available at www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vhl. Accessed January 6, 2009.

15. Schimke RN, Collins DL, Stolle CA. von Hippel-Lindau Syndrome. GeneTests GeneClinics. Available at http://www.geneclinics.org. Accessed December 1, 2004.

16. Schoenfeld AR, Davidowitz EJ, Burk RD. Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products. Proc Natl Acad Sci U S A. Jul 18 2000;97(15):8507-12. [Medline]. [Full Text].

17. Sun X, Kanwar JR, Leung E, Vale M, Krissansen GW. Regression of solid tumors by engineered overexpression of von Hippel-Lindau tumor suppressor protein and antisense hypoxia-inducible factor-1alpha. Gene Ther. Dec 2003;10(25):2081-9. [Medline].

18. VHL Family Alliance. Available at www.vhl.org/aboutvhlfa/index.php. Accessed January 6, 2009.

19. Von Hippel-Lindau disease. Wikipedia. Available at en.wikipedia.org/wiki/Von_Hippel-Lindau_disease. Accessed 01/06/2009.

20. Von Hippel-Lindau syndrome. Genetics Home Reference. Available at ghr.nlm.nih.gov/condition=vonhippellindausyndrome. Accessed January 6, 2009.

21. Von Hippel-Lindau Syndrome. OMIM. Available at www.ncbi.nlm.nih.gov. Accessed February 20, 2009.

Further Reading

Keywords

von Hippel-Lindau disease, von Hippel-Lindau syndrome, VHL syndrome, VHL, von Hippel-Lindau's disease, Hippel disease, Hippel's disease, Hippel-Lindau disease, VHL gene, chromosome 3, 3p26-p25, VHL proteins, pVHL, Knudson's theory of carcinogenesis, retinocerebral angiomatosis, Lindau disease, Lindau's disease, retinal hemangioblastomas, CNS hemangioblastomas, central nervous system hemangioblastomas, pheochromocytomas, renal cyst, pancreatic cyst, renal carcinoma, renal cancer, renal cell carcinoma, RCC, endolymphatic sac tumors, ELSTs, epididymal papillary cystadenomas, treatment, diagnosis, retinal detachment, macular edema, glaucoma, tinnitus

Contributor Information and Disclosures

Author

Germaine L Defendi, MD, MS, FAAP, Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center
Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: Ambulatory Pediatric Association and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.