7 edition of The Official Patient"s Sourcebook on Von Hippel-Lindau Disease found in the catalog.
by Icon Health Publications
Written in English
|The Physical Object|
|Number of Pages||124|
If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box , Gaithersburg, MD - Toll-free: Von Hippel-Lindau (VHL) disease is an autosomal dominant disease that produces a variety of tumors and cysts in the central nervous system and visceral organs, including renal cell carcinoma (RCC). RCC in patients with VHL disease does not frequently metastasize, therefore, the response to treatment and prognosis of metastatic RCC developed in patients with VHL disease has not been reported.
Von Hippel–Lindau (VHL) disease is transmitted as an autosomal dominant trait and is described in detail in Chapter The responsible gene is located on chromosome 3p (19). Hemangioblastomas are found in the majority of patients with VHL disease (20) and may be a cause of death (21). von Hippel-Lindau Disease, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH) The Official Patient's Sourcebook on von Hippel-Lindau Disease, ICON Health Publications, Official Health Sourcebooks National organizations, information on genetic conditions or birth defects.
von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3. This disorder is not rare (about one in 36 livebirths) and is inherited as a highly penetrant autosomal dominant trait (ie, with a high individual risk of disease). Risk factors for renal cell cancer include smoking or misusing certain pain medicines, including over-the-counter pain medicines, for a long time. Having certain genetic conditions, such as von Hippel-Lindau disease or hereditary papillary renal cell carcinoma, is also a risk factor.
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The Official Patient's Sourcebook on Von Hippel-Lindau Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications (Author)Format: Paperback. T1 - Von Hippel-Lindau disease. AU - Couch, Vicki. AU - Lindor, Noralane M. AU - Karnes, Pamela S. AU - Michels, Virginia V.
PY - /1/1. Y1 - /1/1. N2 - An autosomal dominant tumor predisposition syndrome, von HippeI-Lindau disease (VHL) is characterized by the presence of benign and malignant by: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome.
The incidence of VHL disease is assessed about one in 36, livebirths and the penetrance is higher than 90%. Similar to other tumor suppressor gene disorders, VHL disease is characterized by frequent development of specific types of tumors in selective organs.
Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood.
Approximately 80 percent of patients with Von Hippel-Lindau syndrome inherit an altered copy of the VHL gene from a parent who also has Von Hippel-Lindau syndrome.
In the remaining 20 percent of patients, Von Hippel-Lindau syndrome results from the development of a “new” mutation in the VHL gene in one of the father’s sperm, mother’s eggs, or in a cell of the developing fetus.
Von Hippel-Lindau disease Key facts • Von Hippel-Lindau (VHL) disease is a rare, inherited disorder caused by a genetic alteration (or mutation) in the VHL gene. • VHL causes cysts and tumours to develop in various organs from late childhood.
• VHL disease most frequently affects the eyes, cerebellum, kidneys, spinal cord, adrenal gland. HISTORY OF VON HIPPEL-LINDAU DISEASE. One hundred years ago, Eugen von Hippel (–), a German ophthalmologist, published descriptions of retinal hemangioblastomas transmitted through several generations of family members in a small number of kindreds.
1 A number of incomplete descriptions, as well as illustrations, of hemangioblastomas of the eye and vascular. Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body.
Slow-growing hemangioblastomas -- benign tumors with many blood vessels-- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas.
Blansfield JA, Choyke L, Morita SY et al: Clinical, genetic and radiographic analysis of patients with von Hippel-Lindau disease (VHL) manifested by. Pancreatic lesions are generally considered to be the least symptomatic among the lesions of von Hippel-Lindau disease.
However, patients report a number of subtle symptoms which may be caused by pancreatic cysts. Three types of lesions may be found commonly in the pancreas: (1) Cysts (2) Serous microcystic adenomas, or “cystadenomas”. Von Hippel-Lindau disease (VHL) is a genetic disease. It is inherited, which means that it is passed down from parent to child.
What are the symptoms of Von Hippel-Lindau disease (VHL). Symptoms of VHL depend on the size and location of the tumors. They may include. Headaches; Problems with balance and walking; Dizziness; Weakness of the limbs; Vision problems; High blood. Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body.
Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. Tumors called hemangioblastomas are. Doctors for Von Hippel-Lindau Disease: This section presents information about some of the possible medical professionals that might be involved with Von Hippel-Lindau Disease.
Ask your doctor to recommend what other types of doctors, physicians, medical specialists, or other medical professionals should be part of the team for your medical issues. Von Hippel-Lindau syndrome (VHL) is a hereditary tumor syndrome characterized by the development of cysts and tumors throughout the gh most of the tumors are benign, individuals with VHL have an increased risk of several types of cancer, including renal carcinoma and pancreatic neuroendocrine tumors.
A hallmark feature of the condition is the development of a type of benign. Background: Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome diagnosed for 1 out of newborns and 90% of the patients have a clinical manifestation before 65 years.
Von Hippel-Lindau (VHL) syndrome can be very different from one person to person. Accordingly, it is difficult to make predictions about how the disease will progress for a specific individual.
Improved surveillance guidelines have increased the life expectancy. The term 'incidence' of Von Hippel-Lindau Disease refers to the annual diagnosis rate, or the number of new cases of Von Hippel-Lindau Disease diagnosed each year.
Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual.
The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to Reviews: 2.
Introduction. von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25 [1,2].The loss of functional VHL protein contributes to tumorigenesis .This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS).
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited multi systemic cancer syndrome that is classically associated with neoplasms in multiple organs, and caused by mutations in the VHL gene on chromosome 3pp Retinal hemangioblastoma (RH) is the most frequent and the earliest clinical sign of the disease, which is seen in % of patients.
Marie Louise Mølgaard Binderup, Annette Møller Jensen, Esben Budtz-Jørgensen, Marie Luise Bisgaard, Survival and causes of death in patients with von Hippel-Lindau disease, Journal of Medical Genetics, /jmedgenet, 54, 1, (), ().The Official Patient's Sourcebook on Von Hippel-Lindau Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications Paperback from Icon Health.Von-Hippel Lindau Disease (VHL) Care Von-Hippel Lindau Disease (VHL) Care.
Make an Appointment. Call Schedule Online. Having von Hippel–Lindau disease, or VHL, can be overwhelming. You may develop tumors or cancers in up to 10 different parts of your body, from your brain and spinal cord to your pancreas and kidneys.