• Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder with multisystem involvement. (wikipedia.org)
  • Classified as a hereditary phakomatosis, von Hippel-Lindau syndrome (VHL) is an autosomal dominant, inherited, neurocutaneous dysplasia complex with an 80-100% penetrance and variable delayed expressivity. (medscape.com)
  • The final diagnosis was a cerebellar hemangioblastoma associated with von Hippel-Lindau syndrome (same patient as in Images 1-3). (medscape.com)
  • 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. (medlineplus.gov)
  • however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. (medlineplus.gov)
  • Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. (medlineplus.gov)
  • About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear . (medlineplus.gov)
  • Noncancerous tumors may also develop in the liver and lungs in people with von Hippel-Lindau syndrome. (medlineplus.gov)
  • The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals. (medlineplus.gov)
  • Mutations in the VHL gene cause von Hippel-Lindau syndrome. (medlineplus.gov)
  • and cysts that are characteristic of von Hippel-Lindau syndrome. (medlineplus.gov)
  • Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. (medlineplus.gov)
  • Unlike most autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the VHL gene must be altered to trigger tumor and cyst formation in von Hippel-Lindau syndrome. (medlineplus.gov)
  • Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome. (medlineplus.gov)
  • Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited multisystem cancer syndrome with a predilection for the central nervous system (CNS) and the retina. (eyecancer.com)
  • Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. (endocrine-abstracts.org)
  • A review of von Hippel-Lindau syndrome. (vhldisease.com)
  • Tumors in von Hippel-Lindau syndrome: from head to toe-comprehensive state-of-the-art review. (vhldisease.com)
  • certain inherited syndromes such as von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, tuberous sclerosis. (rxwiki.com)
  • Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms most frequently retinal cerebellar and spinal hemangioblastoma renal cell carcinoma (RCC) and pheochromocytoma. (globalgenes.org)
  • Sneddon syndrome is a rare progressive disorder affecting the blood vessels characterized by the association of a skin condition and neurological abnormalities. (brainandnervecenter.com)
  • von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems that have subsequent potential for malignant change. (medscape.com)
  • These conditions include Von Hippel-Lindau syndrome, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube syndrome, and familial renal cancer. (medicalnewstoday.com)
  • Some types of adrenal tumors cause high blood pressure, diabetes, Cushing's syndrome and other conditions. (uchicagomedicine.org)
  • Overproduction of cortisol leads to Cushing's syndrome, a condition that causes upper body obesity, high blood pressure, diabetes and other problems. (uchicagomedicine.org)
  • This condition is known as Conn syndrome or hyperaldosteronism. (uchicagomedicine.org)
  • Von Hippel-Lindau syndrome (VHL) is an autosomal dominant inherited disorder characterized by the formation of both benign and malignant tumors and cysts in various parts of the body. (medscape.com)
  • Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). (cancerhealthcenter.com)
  • People who inherit VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome. (cancerhealthcenter.com)
  • These tumors are the hallmark of patients with the genetic syndrome, Von Hippel-Lindau disease. (okneurospine.com)
  • Steroid-resistant nephrotic syndrome (SRNS) refers to a rare kidney condition which retains excess fluid in the body. (naturalpedia.com)
  • Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. (mc1-r.com)
  • Von Hippel-Lindau Syndrome (VHL) is a rare, autosomal dominant, familial neoplastic disease that affects the central nervous system and multiple organs such as the kidneys, pancreas, adrenals, and reproductive organs. (eyewiki.org)
  • About 5% of brain tumors may be linked to hereditary genetic factors or conditions, including Li-Fraumeni syndrome, neurofibromatosis, nevoid basal cell carcinoma syndrome, tuberous sclerosis, Turcot syndrome, and von Hippel-Lindau disease. (thepackaginginsider.com)
  • The answer to this question was unravelled by Dr William Kaelin who was, at about the same time as the other two researchers, studying an inherited syndrome called von Hippel-Lindau's disease (VHL disease). (kdwis.com)
  • He has special interests in ocular melanoma, retinoblastoma, choroidal hemangiomas, retinal hemangioblastomas, metastases, astrocytic tumors and tumors related to other conditions or syndromes, like von Hippel Lindau disease, Tuberous Sclerosis among others. (eyecancercure.com)
  • It is a type of phakomatosis that results from a mutation in the Von Hippel-Lindau tumor suppressor gene on chromosome 3p25.3. (wikipedia.org)
  • Mutations in the tumor suppressor gene VHL cause the disease, which commonly manifests as a variety of tumors such as hemangioblastomas of the retina and brain as well as renal cell carcinoma. (eyewiki.org)
  • A diagnosis of familial VHL requires a positive family history of disease in addition to one VHL-associated tumor [3] . (eyewiki.org)
  • It is likely that nearly 50% of people who have pheochromocytomas have a genetic or familial disease such as these. (msdmanuals.com)
  • Multiple Endocrine Neoplasias types 1 and 2 (MEN1 and MEN2), hereditary paraganglioma - pheochromocytoma syndromes, and von Hippel-Lindau disease (VHL) are all examples of conditions that predispose people born with certain gene mutations to developing neuroendocrine tumors. (nanets.org)
  • The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of chromosome 3 (3p25-26). (wikipedia.org)
  • Von Hippel-Lindau disease is caused by mutations in a gene. (msdmanuals.com)
  • There are over 1500 germline mutations and somatic mutations found in VHL disease. (wikipedia.org)
  • Approximately 20% of cases of VHL disease are found in individuals without a family history, known as de novo mutations. (wikipedia.org)
  • The remaining 60-70% of VHL disease is caused by the truncation of pVHL by nonsense mutations, indel mutations or splice site mutations. (wikipedia.org)
  • In hereditary VHL disease, techniques such as the Southern blot and gene sequencing can be used to analyse DNA and identify mutations. (wikipedia.org)
  • VHL disease can be subdivided according to the clinical manifestations, although these groups often correlate with certain types of mutations present in the VHL gene. (wikipedia.org)
  • Mutations in VHL cause von Hippel-Lindau disease, a disorder that results in cysts and benign tumors. (the-scientist.com)
  • In classic VHL disease, patients are germline heterozygous for mutations in VHL, and the present results suggest that a single wild-type allele for VHL is sufficient to maintain normal cardiopulmonary function. (ox.ac.uk)
  • This condition is known to increase the risk of developing cancer in families that have inherited mutations in the VHL genes. (kdwis.com)
  • Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. (wikipedia.org)
  • However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms. (wikipedia.org)
  • Symptoms vary widely from condition to condition, and they affect different kids in different ways. (kidshealth.org)
  • A condition where some NETs produce increased levels of the hormone serotonin and cause a number of symptoms such as flushing (redness) of the face, diarrhoea (loose bowel motions), asthma or wheezing, heart failure, stomach cramps, swelling of the ankles, fast heart rate. (christie.nhs.uk)
  • Kidney cancer does not usually cause signs or symptoms until later in the course of the disease, but sometimes symptoms can appear sooner and lead to an early diagnosis. (rxwiki.com)
  • Because our endocrinologists are also experts in managing high blood pressure, diabetes and other conditions caused by hormonal changes, we can help patients effectively manage symptoms caused by an adrenal tumor or by the removal of an adrenal gland. (uchicagomedicine.org)
  • Screening tests are done to check for disease in people who don't have symptoms. (uchealth.com)
  • What are the symptoms for lindau disease? (cancerhealthcenter.com)
  • A patient with the condition will have symptoms of von Hippel-Lindau disease by the time, they are 65. (cancerhealthcenter.com)
  • The patient is unaware of the disease in the initial stages and does not present with any symptoms. (icliniq.com)
  • The condition is inherited in an autosomal dominant manner - one copy of the faulty gene is sufficient to increase the risk of developing tumours. (wikipedia.org)
  • The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common life-threatening monogenic disease, affecting 12 million people worldwide. (basicmedicalkey.com)
  • Topology of autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) proteins polycystin-1, polycystin-2, and fibrocystin/polyductin (FPC) are shown. (basicmedicalkey.com)
  • VHL disease is inherited in an autosomal-dominant Mendelian pattern. (medscape.com)
  • Conditions associated with VHL disease include angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women). (wikipedia.org)
  • Kidney cysts are often seen in a wide range of syndromic diseases. (basicmedicalkey.com)
  • Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (blood vessel tumors), pheochromocytomas , multiple cysts in the pancreas and kidneys, and an increased risk for malignant transformation of renal cysts into renal cell carcinoma. (medscape.com)
  • Von Hippel-Lindau Disease - It is a condition in which the tumors and cysts form in multiple organs of the body. (icliniq.com)
  • In individuals with a family history of VHL disease, one hemangioblastoma, pheochromocytoma or renal cell carcinoma may be sufficient to make a diagnosis. (wikipedia.org)
  • The unexpected finding of a retinal or CNS hemangioblastoma or the diagnosis of a pheochromocytoma should prompt a search for other associated VHL disease features, as many of these patients may have the diagnostic criteria for VHL disease. (medscape.com)
  • Every cell in the body has two copies of every gene (bar those found in the sex chromosomes, X and Y). In VHL disease, one copy of the VHL gene has a mutation and produces a faulty VHL protein (pVHL). (wikipedia.org)
  • His research and that of others has shown that von Hippel-Lindau is caused by a mutation in the VHL gene, which disrupts this system of oxygen sensing and control. (bostonglobe.com)
  • My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. (globalgenes.org)
  • In hypoxic conditions, or in the presence of a deactivating VHL mutation HIF1alpha and other protein players initiate transcription of pro angiogenic genes. (the-scientist.com)
  • Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation. (ox.ac.uk)
  • This study explores the phenotype of two other HIF pathway diseases: classic VHL disease and HIF-2α gain-of-function mutation. (ox.ac.uk)
  • If risk factors for death due to VHL are considered, some studies suggest that onset age, family history, mutation type, and first presenting symptom affect the survival of patients with VHL disease. (cancerhealthcenter.com)
  • The detection of tumours specific to VHL disease is important in the disease's diagnosis. (wikipedia.org)
  • Genetic diagnosis is also useful in VHL disease diagnosis. (wikipedia.org)
  • The mean age at diagnosis of retinal capillary hemangioma in VHL disease is approximately 25 years, and most patients present between the ages of 10 and 40 years. (eyecancer.com)
  • The diagnosis might be confused with retinal macroaneurysm or adult Coats disease when severe exudation exists. (eyecancer.com)
  • A report from the 2014 NKF Journal found that at least one third of the 300,000 kidney cancer survivors at that time in the United States had or would develop kidney disease, so it's very important to monitor kidney funcation from the time of diagnosis and beyond. (kidney.org)
  • The wide age range and pleiotropic manner in which VHL disease presents complicates diagnosis and treatment in affected individuals, as well as their at-risk relatives. (medscape.com)
  • Because VHL disease is a multiple-organ disease that widely varies in clinical presentation, various manifestations may lead to diagnosis. (medscape.com)
  • Although it is a serious condition, timely diagnosis and treatment help the patient survive the condition. (icliniq.com)
  • Definitive diagnosis of Von Hippel-Lindau disease occurs in one of two ways. (eyewiki.org)
  • With the advent of next-generation genome sequencing technologies, gene panel sequencing as a first-tier newborn screening test is a promising strategy, potentially enabling comprehensive and accurate diagnosis of a broad spectrum of genetic conditions at birth. (cdc.gov)
  • Certain genetic diseases, including Von Hippel-Lindau disease and multiple endocrine neoplasia, can increase the risk of these tumors. (uchicagomedicine.org)
  • von Recklinghausen disease) or a number of other genetic diseases. (msdmanuals.com)
  • From the abstract: 'The purpose of this is study it to evaluate the diagnostic utility of publicly-funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases (RGDs). (cdc.gov)
  • Researchers have found genetic factors as well as environmental conditions are linked to an increased risk of developing kidney cancer. (holyname.org)
  • Some research suggests that people who undergo long-term dialysis for end stage kidney disease have a 1.3-fold increased risk of developing kidney cancer, while other sources suggest as much as a fivefold increased risk. (medicalnewstoday.com)
  • As a young researcher just starting his own lab at Dana-Farber in the early 1990s, Kaelin decided to focus on a rare, inherited condition called von Hippel-Lindau disease, which can lead to kidney cancer and benign brain tumors, among other growths. (bostonglobe.com)
  • VHL disease is characterized by retinal capillary hemangiomas (also called benign vascular hamartomas). (medscape.com)
  • It can also be caused by benign (noncancer) conditions, such as kidney stones and infections. (uchealth.com)
  • In normal physiological conditions, pVHL recognizes and binds to HIF1α only when oxygen is present due to the post translational hydroxylation of 2 proline residues within the HIF1α protein. (wikipedia.org)
  • In low oxygen conditions or in cases of VHL disease where the VHL gene is mutated, pVHL does not bind to HIF1α. (wikipedia.org)
  • The work on oxygen sensing has led to the development of potential drugs for heart attack, stroke, and kidney cancer, as well as possible treatments for anemia and retinopathy of prematurity, a condition that can blind premature infants. (bostonglobe.com)
  • The protein enables cancer cells to live in the low-oxygen conditions found within tumors, and helps the body respond to cardiovascular. (the-scientist.com)
  • That was a major accomplishment, but for years after that, nobody knew why it was that this transcription factor was turned on during low oxygen conditions and then turned off during high oxygen conditions," Paul Schumacker , a hypoxia researcher at Northwestern University Feinberg School of Medicine, tells The Scientist . (the-scientist.com)
  • Their regulation is principally by oxygen-dependent degradation, which is initiated by hydroxylation of specific proline residues followed by binding of von Hippel-Lindau (VHL) protein. (ox.ac.uk)
  • As highlighted by the Nobel Assembly above, the discoveries by this year's Nobel laureates have key implications for diseases such as cancer, where rapidly growing cancer cells are normally deprived of oxygen - a medical condition termed hypoxia. (kdwis.com)
  • A number of health conditions, lifestyle, and substances can increase the risk of developing cancer in the kidneys. (turmeric.com)
  • The polycystic kidney diseases are a group of genetically heterogeneous disorders and a leading cause of kidney failure. (basicmedicalkey.com)
  • If you have a family history of kidney cancer or other disorders linked to the disease, you may want to think about genetic testing and kidney cancer screening. (uchealth.com)
  • Some people inherit genes that can increase their risk of developing rare conditions that have a link with types of kidney cancer. (medicalnewstoday.com)
  • Other risk factors for kidney cancer include smoking, having certain genetic conditions, and misusing pain medicines for a long time. (rxwiki.com)
  • [4] Although there have been significant advances in treating kidney cancer over the past ten years, patient outcomes continue to be subpar, indicating a need for more information about their treatment options, including their stage of kidney cancer and risk of kidney disease . (kidney.org)
  • Kidney disease is also connected with a higher risk for RCC. (kidney.org)
  • Kidney disease is already a public health crisis affecting more than 37 million adults in the U.S. yet 90% don't even know they have it or understand the importance of preserving kidney function while being treated for kidney cancer," said Kevin Longino, CEO of the National Kidney Foundation and a kidney transplant recipient. (kidney.org)
  • Most kidney cancers are found by chance during treatment for another condition such as kidney stones. (kidney.org)
  • For more information on NKF's new kidney cancer videos, visit our patient information center at NKF Cares and to learn more about kidney disease, visit kidney.org . (kidney.org)
  • In the United States, 37 million adults are estimated to have chronic kidney disease -and approximately 90 percent don't know they have it. (kidney.org)
  • 1 in 3 adults in the U.S. are at risk for chronic kidney disease. (kidney.org)
  • The autosomal recessive form of polycystic kidney disease (ARPKD) is rarer but affects the pediatric population. (basicmedicalkey.com)
  • FIGURE 339-1 Scheme of the primary cilium and cystic kidney disease proteins. (basicmedicalkey.com)
  • For example, the risks of developing and dying from kidney cancer are both higher in people with diabetes than those without the condition. (turmeric.com)
  • Although there is no way to fully prevent kidney cancer, avoiding preventable risk factors may help reduce a person's chance of getting the disease. (medicalnewstoday.com)
  • Healthcare professionals do not know the exact cause of kidney cancer , but certain factors may increase a person's chance of developing the disease. (medicalnewstoday.com)
  • Individuals who have parents, children, or siblings with kidney cancer may have a higher risk of developing the disease. (medicalnewstoday.com)
  • Some sites also list polycystic kidney disease. (cushingsbios.com)
  • Advanced or chronic kidney disease. (uchealth.com)
  • Dialysis - Patients suffering from chronic kidney disease need an artificial kidney machine known as dialysis to filter the blood. (icliniq.com)
  • For this reason, individuals with VHL disease are usually screened routinely for retinal angiomas, CNS hemangioblastomas, clear-cell renal carcinomas and pheochromocytomas. (wikipedia.org)
  • Retinal capillary "Vvon Hippel" hemangioma is one of the most common and often the earliest manifestations of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. (eyecancer.com)
  • If a patient has a solitary retinal capillary hemangioma, they do not necessarily have VHL disease. (eyecancer.com)
  • Remember that although each of these conditions is challenging, supportive therapies and treatments can help both you and your child. (kidshealth.org)
  • What are the treatments for lindau disease? (cancerhealthcenter.com)
  • Concern is mounting that other gene therapies for rare diseases will meet a similar fate, as might upcoming treatments that rely on the related technique of genome editing, which makes targeted DNA changes. (cdc.gov)
  • From the abstract: 'Rare and ultra-rare diseases have been central to the field of gene therapy since its earliest stage, and we are now witnessing more and more effective treatments entering the clinical realm for patients in need. (cdc.gov)
  • Von Hippel-Lindau disease (VHL) is when blood vessels grow in a small knot instead of in branches. (ebscohealthlibrary.com)
  • So, he's not surprised research that began on one rare cancer might have implications for so many other conditions. (bostonglobe.com)
  • Von Hippel-Lindau (VHL) disease is a systemic and cyclical rare disease that can affect patients through a broad range of manifestations. (vhldisease.com)
  • While the average age of VHL onset is 26 years old, manifestations of the disease can appear in individuals as young as 1 year old. (vhldisease.com)
  • The ocular manifestations of a large von Hippel-Lindau pedigree are presented. (ox.ac.uk)
  • A nice linkurl:AP story;http://hosted.ap.org/dynamic/stories/H/HATFIELD_MCCOY_SECRET?SITE=PASTR&SECTION=HOME&TEMPLATE=DEFAULT talks about the hypothesis that much of the fuel for the famed Hatfield-McCoy feud might be attributed to Von Hippel-Lindau disease, a rare genetic disorder that predisposes those affected to highly-vascularized tumors. (the-scientist.com)
  • Wilson's disease is a rare genetic disorder that prevents a patient's body from getting rid of excess copper. (naturalpedia.com)
  • When the cancer-causing cells are present in the lining of these tubules, the condition is known as renal cell carcinoma. (icliniq.com)
  • Rare diseases at FDA. (vhldisease.com)
  • Gene therapies for rare diseases are under threat. (cdc.gov)
  • However, despite promising results across a range of rare diseases, transformative gene therapies may not be available and accessible to patients for non-medical reasons. (cdc.gov)
  • The incidence of VHL disease in the United States is approximately 1 case in 36,000 live births (worldwide incidence is 1:32,000 live births). (medscape.com)
  • The disease affects one in every 36,000 live births and shows near- complete penetrance (90%) by 65 years of age [1] [2] . (eyewiki.org)
  • Realising the potential of gene therapies for rare and ultra-rare inherited diseases. (cdc.gov)
  • Lindau disease affects males and females and all ethnic groups equally and occurs in all parts of the world. (cancerhealthcenter.com)
  • A functional bowel disease occurs when the digestive system is not working properly, but there are no structural causes. (naturalpedia.com)
  • The incidence of VHL disease is approximately one in 40,000 live births and it is estimated that there are approximately 7,000 patients with VHL disease in the United States. (eyecancer.com)
  • People of Black or African American, Hispanic or Latino, American Indian or Alaska Native, Asian American, or Native Hawaiian or Other Pacific Islander descent are at increased risk for developing the disease. (kidney.org)
  • Compared with people who have never smoked, those who currently smoke have a 30% increased risk of the disease and former smokers have a 15% increased risk. (medicalnewstoday.com)
  • CNS accumulation of gadolinium-based contrast agents has been reported in nearly all patients included in a screening program for VHL disease. (medscape.com)
  • All patients are not eligible for robotic surgery - surgeons select patients based on their age and overall health as well as the type and stage of the disease. (holyname.org)
  • But Kaelin has a particularly personal reason for being in a hurry to help cancer patients: The disease killed his wife last year . (bostonglobe.com)
  • Treating young patients for birthmark conditions is a dedicated part of our practice. (laserskinsurgery.com)
  • [ 1 ] Diagnosed in 50% of patients with VHL disease, these hemangiomas are composed of endothelial cells and pericytes. (medscape.com)
  • Patients who have compromised immune systems are at a higher risk of developing the disease. (okneurospine.com)
  • Although all of these tumours are common in VHL disease, around half of cases present with only one tumour type. (wikipedia.org)
  • Von Hippel-Lindau disease can be split into two subtypes, Type 1 and Type 2, depending on the presence of pheochromocytomas [5] . (eyewiki.org)
  • Under normal conditions, von Hippel-Lindau tumor suppressor pVHL ubiquitinates HIF for degradation. (eyewiki.org)
  • In a 2007 study, a team of doctors and geneticists who had studied dozens of McCoy descendants noted an unusually high rate of Von Hippel-Lindau disease, a rare, inherited condition that produces tumors of the eyes, ears, pancreas and adrenal glands as well as high blood pressure, a racing heartbeat and increased "fight or flight" stress hormones. (history.com)
  • Some signs of the disease, including a stiff neck, impaired reflexes, confusion, and/or speech difficulties, may be comparable to those of meningitis. (brainandnervecenter.com)
  • Most children with Wilms tumor will present with signs of a renal condition, including abdominal swelling or a suspicious mass. (medscape.com)
  • However, a lack of pVHL such as in VHL disease or hypoxia leads to stabilization of HIF-α and increased expression of tumorigenic molecules such as vascular endothelial growth factor (VEGF), platelet- derived growth factor peptide (PDGF), and transforming growth factor (TGF-a) [4] . (eyewiki.org)
  • Under such conditions a small peptide, ubiquitin , is added to the HIF-1α protein. (sciencedaily.com)
  • No cardiopulmonary abnormalities were detected in classic VHL disease. (ox.ac.uk)