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

Clinical Neurogenetics Department of Neurosurgery Wake Forest University School of Medicine Links to information on neurogenetic diseases treated by neurosurgeons: Neurofibromatosis, Tuberous Sclerosis, and von Hippel-Lindau Disease. Links to more information on neurofibromatosis (NF-1 and NF-2) Links to more information on tuberous sclerosis Links to more information on Von Hippel-Lindau disease Von Hippel-Lindau Disease and Hemangioblastoma Von Hippel-Lindau Disease Family Alliance Homepage VHL Family Alliance Handbook: What you Need to Know about VHL VHL Family Alliance via email More information about VHL What is Von Hippel-Lindau Disease? 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

Von Hippel-Lindau Disease by Jeff Allred 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. Dr. Eugene Von Hippel described angiomas in the eye in 1904. Many years later in 1926, Dr. Arvid Lindau described hemangioblastomas of the cerebellum and spine. Their names are usually associated with their respective areas of discovery. 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

"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

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: Retinal angiomatosis (57%) Cerebellar (55%), medullary (6%), and spinal (14%) hemangioblastomas; Pheochromocytoma (19%) Renal cysts (14%) R- enal cell carcinoma (24%) Epididymal cystadenoma (17%) Pancreatic cysts (14%) Pancreatic malignancy (4%) Molecular Characterization and Ophthalmic Investigation of a Large Family With Type 2A von Hippel-Lindau Disease.

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

Von Hippel-Lindau Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites Who to Contact VHL Family Alliance 171 Clinton Road Brookline, Massachusetts, USA 02146 Fax: (617) 734-8233 e-mail: info@vhl.org 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

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, January 4, 2004 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Thursday June 03, 2004 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

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

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Von Hippel-Lindau 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. Central nervous system (CNS) hemangioblastomas occur in 60-80% of patients (infratentorial localisation in 60 % of cases, intraspinal in 30-40%; supratentorial in 1%). Multiple tumours are frequent (hemangioblastomatosis).

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

Genetic Diseases Early detection and removal of growths can help prevent complications of von Hippel-Lindau disease. Von Hippel-Lindau Disease: Symptoms and Treatment What are the symptoms of von Hippel-Lindau disease? Symptoms of von Hippel-Lindau disease (VHL) generally begin to appear around the age of 30. Although type and severity of symptoms differ from patient to patient, symptoms usually develop in a specific order: 1) Retinal hemangioblastomas Brain hemangioblastomas Renal (kidney) cyst s/ renal cell carcinoma 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? Retinal hemangioblastomas (Rhb) are abnormal growths of knotted blood vessels in the retina of the eye. Potential complications of RHb include: Retinal Detachment , leading to vision loss Glaucoma Cataract 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

ICON Health Publications Official Health Sourcebooks The Official Patient's Sourcebook on VON HIPPEL-LINDAU DISEASE (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

Expert Reviews in Molecular Medicine: http://www-ermm.cbcu.cam.ac.uk Accession information: (01)00265-4h.htm (shortcode: txt001frb); 19 March 2001 Reprint/PDF version Discussion Group How to cite this article VHL tumour suppressor gene 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

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Von Hippel-Lindau Disease Pronounced: VON HIP-el LIN-do by Laurie Rosenblum, MPH Definition Causes Risk Factors ... Organizations Definition 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. Causes 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. Risk Factors 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. Symptoms 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

Main Page See live article Alphabetical index Von Hippel-Lindau Disease 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/

Yosakoi Dance Festival in Summer Kochi Castle 6th International Symposium on von Hippel-Lindau Disease May 20 ( Thursday ) - 22 ( Saturday ) , 2004 Location: Kochi City Culture Plaza (CUL-PORT) Hotel Nikko Kochi Asahi Royal, Kochi Japan President: Taro Shuin Department of Urology Kochi Medical School Web Site: http://www.6thVHL2004.org email abstract to vhlsympo@ics-inc.co.jp For detail, please contact to Tel. +81-88-880-2402 or FAX +81-88-880-2404 (Dept of Urology Kochi Med. School) Tel. +81-92-751-3244 or FAX +81-92-751-3250 (Convention service agent , ICS INC.) email. vhlsympo@ics-inc.co.jp With VHL Family Alliance in Japan and in the World

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

Program Date: MAY 20 (Thursday) -22(Saturday),2004 Location: Morning Lunch Time Afternoon Evening MAY 20 (Thu) Workshop I ( Registration : 8:30 ~ ) Lunch Time Seminar Session I Session II Evening Seminar Welcom Reception (at Kochi City Culture Plaza CUL-PORT) May 21 (Fri) Session III Session IV ( Registration : 8:15 ~ ) Lunch Time Seminar Workshop II Session V ( Poster ) Evening Seminar Banquet (at Hotel Nikko Kochi Asahi Royal) May 22 (Sat) Special Lecutre Workshop III

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

Cancer Genetics Web www.cancer genetics.org VHL ; Von Hippel-Lindau Syndrome (3p26-p25) VHL Menu Summary Information - VHL Gene Database Entries for VHL Other VHL Related Resources von Hippel-Lindau disease ... Feedback / suggest a new topic for VHL Search: Summary Information VHL; Von Hippel-Lindau Syndrome Location: Return to VHL Contents Gene Database Entries for VHL OMIM GeneCard (Weizmann Institute) Human Gene Mutation Database (Cardiff, UK) Tumor Gene Database Swiss-Prot Locus Link UniGene ... Nomenclature (search for VHL) Return to VHL Contents Other Related Resources von Hippel-Lindau Syndrome and the VHL Gene (National Center for Biotechnology Information) an overview of von Hippel-Lindau Syndrome and the VHL gene. Links to other gene databases. 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] Search Medline for related articles (PubMed) Medline Search: cancer AND gene AND VHL[TI] (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Return to VHL Contents von Hippel-Lindau disease 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

HOME Von Hippel-Lindau Disease Von Hippel-Lindau disease Universal VHL-Mutations Database VON HIPPEL-LINDAU DISEASE Von Hippel Lindau Disease: Genetic, Clinical and Imaging Features ... HOME

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