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Von Hippel-lindau Disease:     more detail

The Official Patient's Sourcebook on Von Hippel-Lindau Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09 Von Hippel-Lindau disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Deepti, MS, CGC Babu, 2005 Von Hippel-Lindau's disease: Analysis of age of onset and gene expression in a human genetic disease ([Theses for the degree of Master of Science - University ... of Hawaii ; no. 1644 : Biomedical Sciences) by Margaret Marshall, 1979 Gale Encyclopedia of Cancer: von Hippel-Lindau disease by M.S., C.G.C. Laura L. Stein, 2002-01-01 Genodermatoses: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome Von Hippel-Lindau disease: an overview.(Continuing Nuring Edcuation)(Disease/Disorder overview): An article from: Nephrology Nursing Journal by Michele Inglese, 2007-07-01 Von Hippel-Lindau Disease Tumor Suppressor Gene (Medical Intelligence Unit Series) by E. Maher, 1996-10 VHL Handbook Kids' Edition: A handbook for parents and kids living with von Hippel-Lindau (Volume 0) by Melissa Kruger, 2009-05-18 Von Hippel-Lindau Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19 Von Hippel-Lindau syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Mary, MS Freivogel, 2005 What You Need to Know about VHL: A reference handbook for people with von Hippel-Lindau, their families, and support personnel by VHL Family Alliance, 2009-06-18 von HippelLindau disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Cancer, 2nd ed.</i> by Laura, M.S., C.G.C. Stein, Rebecca, PhD Frey, 2006 Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes

lists with details

21. Clinical Neurogenetics, Wake Forest
    Links to more information on von hippellindau disease. von hippel-lindau disease and Hemangioblastoma. von hippel-lindau disease  
    http://www.wfubmc.edu/surg-sci/ns/ngenet.html
    
    Extractions: An International Listing of VHL Support Organizations Information in French Information in Spanish Information in German The Danish VHL Association Danish and English von Hippel-Lindau Disease from the National Institute of Neurological Disorders and Stroke (USA) What is von Hippel-Lindau Disease? Is there any treatment? What is the prognosis? What research is being done? ... Stereotactic Radiosurgery for Hemangioblastomas of the Brain. Ajay Jawahar, M.S., Douglas Kondziolka, M.D., Yolanda I. Garces, M.D., John C. Flickinger, M.D., Bruce E. Pollock, M.D., and L. Dade Lunsford, M.D. UPMC Presbyterian, Pittsburgh, PA. National Cancer Institute Kidney Cancer Web Page Galaxy.Net's

22. Von Hippel-Lindau Disease By Jeff Allred
    von hippellindau disease by Jeff Allred von hippel-lindau disease (VHL), although once thought to be rare, is one of the most common familial cancers.  
    http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/J. Allred
    
    Extractions: Von Hippel-Lindau Disease (VHL), although once thought to be rare, is one of the most common familial cancers. VHL disease is caused by a mutation in a gene located on the short arm of chromosome 3 responsible for tumor suppression. The genetic mutation causes capillary growth to go uncontrolled in parts of the body that are particularly rich in blood vessels. The uncontrolled growth of this vascular tissue causes the capillaries to form knots. These small knots are called angiomas, or hemangioblastomas. Cysts may also grow around angiomas. In June 1993 the VHL gene was identified (Science May 28, 1993). Since the gene was isolated, the make up of the protein that it codes for has been established. However, the exact function of that protein is still not understood. The September 8, 1995, issue of Science documented how the Conaway team located a substance called Elogin that is important in cell growth. Elogin is made up of three small proteins (A, B and C). It is thought to play a role in cell development and death. The VHL gene encodes for a specific protein 213 amino acids long. However, to use this code it must first be transcribed into RNA which is translated into Elogin. The transcription process begins with an initiation and then continues with elongation. Elogin plays a key role in elongation. The VHL protein binds to Elogin substrates therefore inhibiting formation. The absence of Elogin blocks transcription which stops the cell from dividing uncontrollably.

23. Von Hippel Lindau Disease
    von hippellindau disease. One of the phakomatoses. von Hippel- Lindau disease - Neuropathophysiology. Phakomatoses. Return to uscneurosurgery.com Homepage.  
    http://uscneurosurgery.com/glossary/v/von hippel lindau disease.htm

24. Von Hippel-Lindau Disease
    A B C D E F G H I J K L M N O P Q R S T U V W X Y Z . Back Home Next. von hippellindau disease.  
    http://www.ability.org.uk/von.html
    
    Extractions: "see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z von Hippel-Lindau disease VHL Family Alliance - A home page providing information about von Hippel-Lindau disease, a rare familial cancer, sponsored by a non-profit support organization. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

25. Von Hippel-Lindau Disease
    Von Hippel–Lindau disease affecting 43 members of a single kindred. Germline mutations in the von hippellindau disease (VHL) gene in Japanese VHL.  
    http://www.thedoctorsdoctor.com/diseases/vonhippel-lindau_disease.htm
    
    Extractions: Background This rare disease is autosomal dominantly inherited and contains a spectrum of clinical signs and symptoms. There are multiple clear cell neoplasms in various organs including retinal and central nervous system hemangioblastomas, renal cell carcinomas, pheochromocytomas, pancreatic endocrine tumors, and cysts. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links DISEASE ASSOCIATIONS CHARACTERIZATION Von Hippel–Lindau disease: affecting 43 members of a single kindred. Lamiell JM, Salazar FG, Hsia YE. Medicine 1989;68:1–29. At least 25 distinct lesions have been described in this disorder In a review of 511 previously published cases in the literature, the incidence of the most common lesions are as follows:

26. Von Hippel-Lindau Syndrome / The Family Village
    This is an open support forum for anyone interested in the exchange of information among individuals and families affected by von hippellindau disease (VHL).  
    http://www.familyvillage.wisc.edu/lib_vonh.htm
    
    Extractions: Web: http://www.vhl.org/ VHL (Von Hipple-Lindau Disease) Family Alliance's mission is to improve diagnosis, treatment, and quality of life for people with Von Hipple-Lindau Disease, serving individuals, families, and related medical professionals. They promote education of patients, families, the medical community, and the general public concerning the disease. The Alliance has local support groups, you may call the 800 number or e-mail: vhl@pipeline.com for the local chapter nearest you and they will assist in starting a new support group in an area where none is presently available. They do parent-to-parent matching for anyone who writes describing their situation and requesting a match. The alliance publishes a quarterly newsletter, VHL Family Forum , that is included in membership fees, and they have brochures available including, "What is VHL?,"

27. Von Hippel-lindau Disease; Treatment, Prevention, Cure
    von hippellindau disease Search here for information which may include treatment, diagnosis, prevention, support groups, email lists, messageboards, personal  
    http://www.healthlinkusa.com/content/330.html

28. HealthlinkUSA Von Hippel-lindau Disease Links
    You can find von hippellindau disease right now at Info.com. Click here for page 1 of von hippel-lindau disease information from the HealthlinkUSA directory.  
    http://www.healthlinkusa.com/330ent.htm

29. Kprones VHLKpr10010
    Bibliography. von hippellindau disease affecting 43 members of a single kindred. Clinical features and natural history of von hippel-lindau disease.  
    http://www.infobiogen.fr/services/chromcancer/Kprones/VHLKpr10010.html
    
    Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Note Von Hippel-Lindau (VHL) disease is a hereditary devastating cancer syndrome, predisposing to the development of various benign and malignant tumours (Central Nervous System [CNS] and retinal hemangioblastomas, endolymphatic sac tumours, renal cell carcinoma (RCC) and/or renal cysts, pheochromocytomas, pancreatic cysts and neuroendocrine tumours, endolymphatic sac tumours, epididymal and broad ligament cystadenomas). VHL disease is the first cause of hereditary kidney cancer Inheritance an autosomal dominant disorder with high penetrance (increasing with age: 97% by age 60 yrs) but variable expressivity (with phenotype/genotype correlations); frequency is estimated at about 2.5/10 ; neomutations represent about 20% of cases. Clinics Phenotype and clinics onset of the disease usually occurs between 18 and 30 yrs, often with retinal or cerebellar hemangioblastomas, but can also manifests in children, especially by retinal hemangioblastomas and pheochromocytoma.

30. Health Library -
    Von Hippel Lindau Disease. The symptoms of von hippellindau disease vary greatly and depend on the size and location of the growths.  
    http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

31. Von Hippel-Lindau Disease Symptoms And Treatment
    Early detection and removal of growths can help prevent complications of von hippellindau disease. von hippel-lindau disease Symptoms and Treatment.  
    http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea
    
    Extractions: Genetic Diseases Early detection and removal of growths can help prevent complications of von Hippel-Lindau disease. Von Hippel-Lindau Disease: Symptoms and Treatment Pheochromocytomas (tumors of the adrenal gland ) are most common in patients who do not develop brain or renal growths. What are the potential signs and complications of retinal hemangioblastomas? What are the potential symptoms and complications of brain hemangioblastomas? Depending upon the exact location within the brain or spinal cord, hemangioblastomas can cause varied neurological symptoms. Potential symptoms include: Headaches Poor Balance when walking Weakness of the Arms and Legs Seizures Light-Headedness upon changing position Back-and-Forth Movements of the Eyes ("

32. Von Hippel-Lindau Disease
    von hippel lindau disease. von hippellindau disease signs. constipation von hippel-lindau disease. piles von hippel-lindau disease. von hippel-lindau disease pain.  
    http://www.icongrouponline.com/health/Von_Hippel-Lindau_Disease.html
    
    Extractions: (Angioblastomatosis; Angiomatosis Retinae; Angiophakomatosis retinae et cerebelli; Cerebelloretinal hemangioblastomatosis; Cerebelloretinal hemangioblastomato-sis; Hippel Disease; Hippel-Lindau Syndrome; Lindau Disease; Retinocerebellar Angiomatosis) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on von Hippel-Lindau Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Angioblastomatosis; Angiomatosis Retinae; Angiophakomatosis retinae et cerebelli; Cerebelloretinal hemangioblastomatosis; Cerebelloretinal hemangioblastomato-sis; Hippel Disease; Hippel-Lindau Syndrome; Lindau Disease; Retinocerebellar Angiomatosis Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Von Hippel-Lindau Disease: Guidelines

33. Txt001frb: Molecular Pathology Of Von Hippel-Lindau Disease And The VHL Tumour S
    14 Seizinger, BR et al. (1991) Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.  
    http://www-ermm.cbcu.cam.ac.uk/01002654h.htm
    
    Extractions: Frances M. Richards VHL gene was isolated in 1993 and mutations or deletions in the VHL VHL gene is deleted, mutated or silenced by promoter methylation in the tumours from VHL patients, and in a large proportion of sporadic tumours of the same histological types as observed in VHL disease. Thus, the VHL gene is of major importance in the development of RCC in the general population. Recent advances in understanding the structure and function of the VHL protein (pVHL) have revealed insights into the different phenotypes, with indications that some retention of function might be required for predisposition to phaeochromocytoma. pVHL interacts with many cellular proteins, mainly via one of two protein-binding domains ( a and b ). The best-characterised interaction is that of pVHL with elongin C, which forms a complex with elongin B and Cullin 2 proteins. This complex has E3 ubiquitin ligase activity and promotes ubiquitin-mediated proteasomal degradation of the hypoxia-inducible factor 1 a (HIF-1 a ) transcription factor under normal oxygen (normoxic) conditions. Loss of pVHL function leads to stabilisation of HIF-1 and expression under normoxic conditions of hypoxia-inducible genes including vascular endothelial growth factor (VEGF), which might explain the hypervascular phenotype of VHL tumours. Several other genes implicated in intra- and intercellular signalling and control of tumour growth are overexpressed in the absence of pVHL, but it is not yet clear which features of pVHL function are most significant for tumour suppression in different tissues. Further advances in understanding pVHL function might eventually enable development of specific therapies for prevention or treatment of VHL tumours and RCC.

34. Von Hippel-Lindau Disease
    von hippellindau disease. Pronounced VON HIP-el LIN-do. Von Hippel Lindau Disease Genetic, clinical and imaging features.” Radiology, March 1995.  
    http://www.somersetmedicalcenter.com/1850.cfm
    
    Extractions: Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Pronounced: VON HIP-el LIN-do by Laurie Rosenblum, MPH Definition Causes Risk Factors ... Organizations von Hippel-Lindau disease (VHL) is a rare genetic disorder (affecting approximately 1 in 36,000 people) in which some blood vessels grow in an abnormal way. It tends to occur in parts of the body that are rich in blood vessels. VHL is caused by an abnormal change in a gene. This gene mutation, which is passed on from parent to child, results in the uncontrolled growth of some capillaries. Capillaries are tiny blood vessels. Instead of growing normally like the branches of a tree, these blood vessels grow in a small knot. The knot forms a growth or tumor called an angioma or a hemangioblastoma, most commonly in the eye and brain. VHL is also associated with other tumors, some of which are cancerous, and abnormal cysts throughout the body. A risk factor is something that increases your chances of getting a disease or condition. The only known risk factor for VHL is having family members with VHL. There is wide variation in the age at which VHL begins, the organs where problems occur, and the types and severity of symptoms. These differences occur even among members of the same family.

35. Your Health - Von Hippel-Lindau Disease
    von hippellindau disease. Pronounced VON HIP-el LIN-do. by Laurie Rosenblum, MPH. Definition. von hippel-lindau disease (VHL) is a  
    http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthga

36. Von Hippel-Lindau Disease
    von hippellindau disease. von hippel-lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of  
    http://www.fact-index.com/v/vo/von_hippel_lindau_disease.html
    
    Extractions: Main Page See live article Alphabetical index Von Hippel-Lindau Disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. In people with VHL little knots of capillaries sometimes occur called angiomatosis. The tumors of the central nervous system ( CNS ) are called hemangioblastomas These tumors, whether benign (usual) or malignant (rarer), may cause problems, for example angiomas in the brain or spinal cord may press on nerve or brain tissue. As an angioma grows, the walls of the blood vessels may weaken and leak, causing damage to surrounding tissues. Blood leakage from angiomas in the retina can interfere with vision. Cysts may also grow around angiomas. VHL is a autosomal dominant disorder, but there is a wide variation in the date of onset of the disease, the organ system affected and the severity of effect. Untreated, VHL may result in blindness and permanent brain damage, death is usually caused by complications of malign tumors in the brain or kidney. Dr. Eugen von Hippel described the angiomas in the eye in 1904. Dr. Arvid Lindau described the angiomas of the

37. 6th International Symposium On Von Hippel-Lindau Disease
    Kochi Castle. 6th International Symposium on von hippellindau disease. Recent Advance in the VHL Disease other Familial Kidney Tumor Syndromes.  
    http://www.6thvhl2004.org/

38. 6th International Symposium On Von Hippel-Lindau Disease | Program
    London Dysmorphology Database and Geneeye Databases Illustrated by the entry on Von Hippel Lindau disease HU Moller, Denmark. A case  
    http://www.6thvhl2004.org/contents/program.html

39. VHL - Von Hippel-Lindau Syndrome - Cancer GeneticsWeb
    Return to VHL Contents. von hippellindau disease. von development. Richards FM, et al. Molecular genetic analysis of von hippel-lindau disease.  
    http://www.cancerindex.org/geneweb/VHL.htm
    
    Extractions: VHL Mutations Database (Universal Mutation Database, France) Medline Search: VHL (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Medline Search: Von Hippel-Lindau Syndrome (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Return to VHL Contents von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterised by the development of vascular tumours of the central nervous system and retina, renal carcinomas, pheochromocytomas, pancreatic islet cell tumours, endolymphatic sac tumours, and benign cysts affecting a variety of organs. VHL is a dominantly inherited syndrome associated with germline mutations of the VHL tumour suppressor gene located on chromosome 3p25. Inactivation or loss of the remaining wild-type allele in a susceptible cell may lead to tumour development.

40. Von Hippel-Lindau Disease
    HOME. von hippellindau disease. Von DISEASE; Von Hippel Lindau Disease Genetic, Clinical and Imaging Features; VON HIPPEL-LINDAU SYNDROME;  
    http://www.bdid.com/vhld.htm

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