An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.
A ubiquitin-protein ligase that mediates OXYGEN-dependent polyubiquitination of HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT. It is inactivated in VON HIPPEL-LINDAU SYNDROME.
A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)
A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)
Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by OXYGEN availability and is targeted for degradation by VHL TUMOR SUPPRESSOR PROTEIN.
A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
Tumors or cancers of the KIDNEY.
A mixed-function oxygenase that catalyzes the hydroxylation of a prolyl-glycyl containing peptide, usually in PROTOCOLLAGEN, to a hydroxyprolylglycyl-containing-peptide. The enzyme utilizes molecular OXYGEN with a concomitant oxidative decarboxylation of 2-oxoglutarate to SUCCINATE. The enzyme occurs as a tetramer of two alpha and two beta subunits. The beta subunit of procollagen-proline dioxygenase is identical to the enzyme PROTEIN DISULFIDE-ISOMERASES.
The Nobel Prize is not a medical term, but a prestigious international award given annually in several categories, including Physiology or Medicine, for significant contributions to humanity that have conferred the greatest benefit to mankind.
A diverse class of enzymes that interact with UBIQUITIN-CONJUGATING ENZYMES and ubiquitination-specific protein substrates. Each member of this enzyme group has its own distinct specificity for a substrate and ubiquitin-conjugating enzyme. Ubiquitin-protein ligases exist as both monomeric proteins multiprotein complexes.
A protein which effects termination of RNA synthesis during the genetic transcription process by dissociating the ternary transcription complex RNA;-RNA POLYMERASE DNA at the termination of a gene.
A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor.
The blind pouch at the end of the endolymphatic duct. It is a storage reservoir for excess ENDOLYMPH, formed by the blood vessels in the membranous labyrinth.
A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis.
A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue, with a malignant potential several times greater than that of mucinous cystadenoma (CYSTADENOMA, MUCINOUS). It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. (Dorland, 27th ed; from Hughes, Obstetric-Gynecologic Terminology, 1972)
A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic.

Von Hippel's disease in association with von Recklinghausen's neurofibromatosis. (1/340)

Ten members of a large family who showed manifestations of either von Hippel-Lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestations of different phakomatoses and provide support for the concept of a common aetiology for these diseases.  (+info)

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. (2/340)

Mutation of the VHL tumor suppressor is associated with the inherited von Hippel-Lindau (VHL) cancer syndrome and the majority of kidney cancers. VHL binds the ElonginC-ElonginB complex and regulates levels of hypoxia-inducible proteins. The structure of the ternary complex at 2.7 angstrom resolution shows two interfaces, one between VHL and ElonginC and another between ElonginC and ElonginB. Tumorigenic mutations frequently occur in a 35-residue domain of VHL responsible for ElonginC binding. A mutational patch on a separate domain of VHL indicates a second macromolecular binding site. The structure extends the similarities to the SCF (Skp1-Cul1-F-box protein) complex that targets proteins for degradation, supporting the hypothesis that VHL may function in an analogous pathway.  (+info)

Third International Meeting on von Hippel-Lindau disease. (3/340)

Five years after the identification of the von Hippel-Lindau (VHL) gene, physicians, scientists and concerned VHL family members met to review the current state of knowledge on the diagnosis and treatment of VHL and to summarize the latest information on the biochemistry of the VHL protein (pVHL). The NIH and University of Pennsylvania groups reported the detection of germ-line mutations in 100% (93 of 93) of VHL families studied. Several studies determined the frequency of VHL germ-line mutations in individuals with a single manifestation of VHL without a family history of VHL. National groups to improve the diagnosis and treatment of individuals with VHL disease have been established in Great Britain, Denmark, France, Holland, Italy, Japan, Poland, and the United States. Evidence for the existence of genes that modify the expression of VHL was presented. The VHL protein appears to have several distinct functions: (a) down-regulation of hypoxia-inducible mRNAs; (b) proper assembly of the extracellular fibronectin matrix; (c) regulation of exit from the cell cycle; and (d) regulation of expression of carbonic anhydrases 9 and 12.  (+info)

Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma. (4/340)

BACKGROUND: The development of renal cell carcinoma (RCC) has been associated with both genetic and environmental factors-with mutations in the von Hippel-Lindau (VHL) tumor suppressor gene for clear-cell RCC specifically and with long-term exposure to high doses of trichloroethylene (TRI), an industrially important solvent, for RCC generally. We investigated whether TRI exposure produces RCC through a specific mutational effect on the VHL gene by analyzing VHL sequences in the RCCs of patients exposed to high, cumulative doses of TRI. METHODS: The level of exposure for each of 44 patients with RCC who had known industrial exposure to TRI was classified according to the duration, frequency, and mode of exposure. Samples of normal and cancerous tissues were microdissected from paraffin-embedded tissue. DNA was isolated from these samples, and somatic VHL mutations were identified by polymerase chain reaction analysis, single-strand conformation polymorphism analysis, DNA sequencing, and restriction enzyme digestion. Control samples included RCC DNA from 107 patients without known TRI exposure and lymphocyte DNA from 97 healthy subjects. RESULTS: RCCs of TRI-exposed patients showed somatic VHL mutations in 33 (75%) of 44 cases. The mutations were frequently multiple and accompanied by loss of heterozygosity, and there was an association between the number of mutations and the severity of TRI exposure. We observed a specific mutational hot spot at VHL nucleotide 454 in the RCCs of 13 (39%) of the patients, and this mutation was present in adjacent non-neoplastic kidney parenchyma in four of these patients. The nucleotide 454 mutation was neither detected in any of the RCCs from patients without TRI exposure nor in any of the healthy subjects. CONCLUSION: Our results suggest that RCC in patients with high, cumulative TRI exposure is associated with a unique mutation pattern in the VHL gene.  (+info)

Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. (5/340)

BACKGROUND: The detection of pheochromocytomas in patients at risk for these tumors, such as patients with von Hippel-Lindau disease or multiple endocrine neoplasia type 2 (MEN-2), is hindered by the inadequate sensitivity of commonly available biochemical tests. In this study we evaluated measurements of plasma normetanephrine and metanephrine for detecting pheochromocytomas in patients with von Hippel-Lindau disease or MEN-2. METHODS: We studied 26 patients with von Hippel-Lindau disease and 9 patients with MEN-2 who had histologically verified pheochromocytomas and 50 patients with von Hippel-Lindau disease or MEN-2 who had no radiologic evidence of pheochromocytoma. Von Hippel-Lindau disease and MEN-2 were diagnosed on the basis of germ-line mutations of the appropriate genes. The plasma concentrations of normetanephrine and metanephrine were compared with the plasma concentrations of catecholamines (norepinephrine and epinephrine) and urinary excretion of catecholamines, metanephrines, and vanillylmandelic acid. RESULTS: The sensitivity of measurements of plasma normetanephrine and metanephrine for the detection of tumors was 97 percent, whereas the other biochemical tests had a sensitivity of only 47 to 74 percent. All patients with MEN-2 had high plasma concentrations of metanephrine, whereas the patients with von Hippel-Lindau disease had almost exclusively high plasma concentrations of only normetanephrine. One patient with von Hippel-Lindau disease had a normal plasma normetanephrine concentration; this patient had a very small adrenal tumor (<1 cm). The high sensitivity of measurements of plasma normetanephrine and metanephrine was accompanied by a high level of specificity (96 percent). CONCLUSIONS: Measurements of plasma normetanephrine and metanephrine are useful in screening for pheochromocytomas in patients with a familial predisposition to these tumors.  (+info)

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. (6/340)

Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolae membrane domains in striated muscle cell types (cardiac and skeletal). Recently, we identified an autosomal dominant form of limb girdle muscular dystrophy in humans that is due to mutations within exon 2 of the caveolin-3 gene (3p25). However, the detailed location of the human caveolin-3 gene and its position with regard to neighboring genes remains unknown. Here, we have isolated three independent BAC clones containing the human caveolin-3 gene. Using a PCR-based approach, we determined that these clones contain both exons 1 and 2 of the human caveolin-3 gene. In addition, we performed microsatellite marker analysis of these BAC clones, using a panel of 13 markers that are known to map within the 3p25 region. Our results indicate that these BAC clones contain the following three markers: D3S18, SHGC-1079 (also known as D3S4163) and D3S4539. Interestingly, D3S18 is a marker for two known human diseases, von Hippel-Lindau disease and 3p-syndrome. As D3S4163 and D3S4539 are known to map in the vicinity of the 3' end of the human oxytocin receptor gene, we determined if these caveolin-3 positive BACs also contain the oxytocin receptor gene. We show that (i) these BACs contain all four exons of the oxytocin receptor gene and (ii) that the genes encoding caveolin-3 and the oxytocin receptor are located approximately 7-10 kb apart and in the opposite orientation. As 3p-syndrome is characterized by cardiac septal defects and caveolin-3 is expressed primarily in the heart and skeletal muscle, caveolin-3 is a candidate gene that may be deleted in 3p-syndrome.  (+info)

The von Hippel-Lindau tumor suppressor gene inhibits hepatocyte growth factor/scatter factor-induced invasion and branching morphogenesis in renal carcinoma cells. (7/340)

Loss of function in the von Hippel-Lindau (VHL) tumor suppressor gene occurs in familial and most sporadic renal cell carcinomas (RCCs). VHL has been linked to the regulation of cell cycle cessation (G(0)) and to control of expression of various mRNAs such as for vascular endothelial growth factor. RCC cells express the Met receptor tyrosine kinase, and Met mediates invasion and branching morphogenesis in many cell types in response to hepatocyte growth factor/scatter factor (HGF/SF). We examined the HGF/SF responsiveness of RCC cells containing endogenous mutated (mut) forms of the VHL protein (VHL-negative RCC) with that of isogenic cells expressing exogenous wild-type (wt) VHL (VHL-positive RCC). We found that VHL-negative 786-0 and UOK-101 RCC cells were highly invasive through growth factor-reduced (GFR) Matrigel-coated filters and exhibited an extensive branching morphogenesis phenotype in response to HGF/SF in the three-dimensional (3D) GFR Matrigel cultures. In contrast, the phenotypes of A498 VHL-negative RCC cells were weaker, and isogenic RCC cells ectopically expressing wt VHL did not respond at all. We found that all VHL-negative RCC cells expressed reduced levels of tissue inhibitor of metalloproteinase 2 (TIMP-2) relative to the wt VHL-positive cells, implicating VHL in the regulation of this molecule. However, consistent with the more invasive phenotype of the 786-0 and UOK-101 VHL-negative RCC cells, the levels of TIMP-1 and TIMP-2 were reduced and levels of the matrix metalloproteinases 2 and 9 were elevated compared to the noninvasive VHL-positive RCC cells. Moreover, recombinant TIMPs completely blocked HGF/SF-mediated branching morphogenesis, while neutralizing antibodies to the TIMPs stimulated HGF/SF-mediated invasion in vitro. Thus, the loss of the VHL tumor suppressor gene is central to changes that control tissue invasiveness, and a more invasive phenotype requires additional genetic changes seen in some but not all RCC lines. These studies also demonstrate a synergy between the loss of VHL function and Met signaling.  (+info)

Renal cancer genetics: von Hippel Lindau and other syndromes. (8/340)

There have been significant advances in our understanding of the genetic basis of renal carcinogenesis. In particular, research in the last five years has demonstrated a central role for the inactivation of the von Hippel-Lindau gene by mutation or hypermethylation in the formation of the conventional type of renal cell carcinoma. The von Hippel-Lindau syndrome is characterised by germ-line inactivating mutation whereas sporadic renal carcinoma is associated with somatic mutations. Tumour formation is accompanied by loss of the remaining wild-type allele. The biology of the von Hippel-Lindau gene and its normal function continued to be unravelled but a role has been demonstrated for it in the regulation of gene transcription, the regulation of oxygen-dependent genes and their expression and the control of tumour angiogenesis acting via the vascular endothelial growth factor. Another form of familial renal cancer, the hereditary papillary renal cell carcinoma, has been shown to be consequent upon activating mutations of the c-met proto-oncogene. The genetic data continue to enhance our understanding of the biology of this common set of neoplasms.  (+info)

Von Hippel-Lindau (VHL) disease is a rare genetic disorder characterized by the development of tumors and cysts in various parts of the body. It is caused by mutations in the VHL gene, which leads to the abnormal growth of blood vessels, resulting in the formation of these tumors.

The tumors associated with VHL disease can develop in several organs, including the eyes (in the form of retinal hemangioblastomas), the brain and spinal cord (in the form of cerebellar hemangioblastomas and spinal cord hemangioblastomas), the adrenal glands (in the form of pheochromocytomas or paragangliomas), the kidneys (in the form of clear cell renal cell carcinomas), and the pancreas (in the form of serous cystadenomas or neuroendocrine tumors).

Individuals with VHL disease are at risk for developing multiple tumors over their lifetime, and the severity of the disease can vary widely from person to person. The diagnosis of VHL disease is typically made through genetic testing, family history, and imaging studies to detect the presence of tumors. Treatment may involve surgical removal of the tumors, radiation therapy, or other interventions depending on the location and size of the tumors. Regular monitoring and follow-up are essential for individuals with VHL disease to manage their condition effectively.

The Von Hippel-Lindau (VHL) tumor suppressor protein is a crucial component in the regulation of cellular growth and division, specifically through its role in oxygen sensing and the ubiquitination of hypoxia-inducible factors (HIFs). The VHL protein forms part of an E3 ubiquitin ligase complex that targets HIFs for degradation under normoxic conditions. In the absence of functional VHL protein or in hypoxic environments, HIFs accumulate and induce the transcription of genes involved in angiogenesis, cell proliferation, and metabolism.

Mutations in the VHL gene can lead to the development of Von Hippel-Lindau syndrome, a rare inherited disorder characterized by the growth of tumors and cysts in various organs, including the central nervous system, retina, kidneys, adrenal glands, and pancreas. These tumors often arise from the overactivation of HIF-mediated signaling pathways due to the absence or dysfunction of VHL protein.

Hemangioblastoma is a rare, benign (non-cancerous) tumor that develops from the blood vessels in the central nervous system, most commonly found in the brain and spinal cord. These tumors can be associated with von Hippel-Lindau disease, an inherited disorder that predisposes affected individuals to develop various types of tumors and cysts throughout their bodies. Hemangioblastomas are typically slow-growing but can cause symptoms due to pressure on surrounding tissues or by causing the formation of cysts or fluid-filled sacs near the tumor. Symptoms may include headaches, dizziness, balance problems, weakness, numbness, or vision changes depending on the location and size of the tumor. Treatment options usually involve surgical removal of the tumor, radiation therapy, or observation with regular imaging follow-ups.

A pancreatic cyst is a fluid-filled sac that forms in the pancreas, a gland located behind the stomach that produces enzymes to help with digestion and hormones to regulate blood sugar levels. Pancreatic cysts can be classified into several types, including congenital (present at birth), retention (formed due to blockage of pancreatic ducts), and pseudocysts (formed as a result of injury or inflammation).

While some pancreatic cysts may not cause any symptoms, others can lead to abdominal pain, bloating, nausea, vomiting, or jaundice. Some cysts may also have the potential to become cancerous over time. Therefore, it is essential to monitor and evaluate pancreatic cysts through imaging tests such as ultrasound, CT scan, or MRI, and in some cases, endoscopic ultrasound (EUS) with fine-needle aspiration (FNA) may be necessary for further evaluation.

Treatment options for pancreatic cysts depend on the type, size, location, and symptoms of the cyst, as well as the patient's overall health condition. Some cysts may require surgical removal, while others can be managed with regular monitoring and follow-up care. It is essential to consult a healthcare provider for proper evaluation and management of pancreatic cysts.

Hypoxia-Inducible Factor 1 (HIF-1) is a transcription factor that plays a crucial role in the body's response to low oxygen levels, also known as hypoxia. HIF-1 is a heterodimeric protein composed of two subunits: an alpha subunit (HIF-1α) and a beta subunit (HIF-1β).

The alpha subunit, HIF-1α, is the regulatory subunit that is subject to oxygen-dependent degradation. Under normal oxygen conditions (normoxia), HIF-1α is constantly produced in the cell but is rapidly degraded by proteasomes due to hydroxylation of specific proline residues by prolyl hydroxylase domain-containing proteins (PHDs). This hydroxylation reaction requires oxygen as a substrate, and under hypoxic conditions, the activity of PHDs is inhibited, leading to the stabilization and accumulation of HIF-1α.

Once stabilized, HIF-1α translocates to the nucleus, where it heterodimerizes with HIF-1β and binds to hypoxia-responsive elements (HREs) in the promoter regions of target genes. This binding results in the activation of gene transcription programs that promote cellular adaptation to low oxygen levels. These adaptive responses include increased erythropoiesis, angiogenesis, glucose metabolism, and pH regulation, among others.

Therefore, HIF-1α is a critical regulator of the body's response to hypoxia, and its dysregulation has been implicated in various pathological conditions, including cancer, cardiovascular disease, and neurodegenerative disorders.

Carcinoma, renal cell (also known as renal cell carcinoma or RCC) is a type of cancer that originates in the lining of the tubules of the kidney. These tubules are small structures within the kidney that help filter waste and fluids from the blood to form urine.

Renal cell carcinoma is the most common type of kidney cancer in adults, accounting for about 80-85% of all cases. It can affect people of any age, but it is more commonly diagnosed in those over the age of 50.

There are several subtypes of renal cell carcinoma, including clear cell, papillary, chromophobe, and collecting duct carcinomas, among others. Each subtype has a different appearance under the microscope and may have a different prognosis and response to treatment.

Symptoms of renal cell carcinoma can vary but may include blood in the urine, flank pain, a lump or mass in the abdomen, unexplained weight loss, fatigue, and fever. Treatment options for renal cell carcinoma depend on the stage and grade of the cancer, as well as the patient's overall health and preferences. Treatment may include surgery, radiation therapy, chemotherapy, immunotherapy, or targeted therapy.

Kidney neoplasms refer to abnormal growths or tumors in the kidney tissues that can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various types of kidney cells, including the renal tubules, glomeruli, and the renal pelvis.

Malignant kidney neoplasms are also known as kidney cancers, with renal cell carcinoma being the most common type. Benign kidney neoplasms include renal adenomas, oncocytomas, and angiomyolipomas. While benign neoplasms are generally not life-threatening, they can still cause problems if they grow large enough to compromise kidney function or if they undergo malignant transformation.

Early detection and appropriate management of kidney neoplasms are crucial for improving patient outcomes and overall prognosis. Regular medical check-ups, imaging studies, and urinalysis can help in the early identification of these growths, allowing for timely intervention and treatment.

Procollagen-proline dioxygenase is an enzyme that belongs to the family of oxidoreductases, specifically those acting on the CH-NH group of donors with oxygen as an acceptor. This enzyme is involved in the post-translational modification of procollagens, which are the precursors of collagen, a crucial protein found in connective tissues such as tendons, ligaments, and skin.

Procollagen-proline dioxygenase catalyzes the reaction that adds two hydroxyl groups to specific proline residues in the procollagen molecule, converting them into hydroxyprolines. This modification is essential for the proper folding and stabilization of the collagen triple helix structure, which provides strength and resilience to connective tissues.

The enzyme requires iron as a cofactor and molecular oxygen as a substrate, with vitamin C (ascorbic acid) acting as an essential cofactor in the reaction cycle. The proper functioning of procollagen-proline dioxygenase is critical for maintaining the integrity and health of connective tissues, and deficiencies or mutations in this enzyme can lead to various connective tissue disorders, such as scurvy (caused by vitamin C deficiency) or certain forms of osteogenesis imperfecta (a genetic disorder characterized by fragile bones).

I'm sorry for any confusion, but the term "Nobel Prize" is not a medical definition. The Nobel Prize is an international award given annually in several categories, and one of those categories is physiology or medicine. The Nobel Prize in Physiology or Medicine is awarded to individuals who have made significant discoveries of outstanding importance in the fields of life sciences and medicine. It is one of the most prestigious awards in these fields.

Ubiquitin-protein ligases, also known as E3 ubiquitin ligases, are a group of enzymes that play a crucial role in the ubiquitination process. Ubiquitination is a post-translational modification where ubiquitin molecules are attached to specific target proteins, marking them for degradation by the proteasome or for other regulatory functions.

Ubiquitin-protein ligases catalyze the final step in this process by binding to both the ubiquitin protein and the target protein, facilitating the transfer of ubiquitin from an E2 ubiquitin-conjugating enzyme to the target protein. There are several different types of ubiquitin-protein ligases, each with their own specificity for particular target proteins and regulatory functions.

Ubiquitin-protein ligases have been implicated in various cellular processes such as protein degradation, DNA repair, signal transduction, and regulation of the cell cycle. Dysregulation of ubiquitination has been associated with several diseases, including cancer, neurodegenerative disorders, and inflammatory responses. Therefore, understanding the function and regulation of ubiquitin-protein ligases is an important area of research in biology and medicine.

The Rho factor, also known as Rho protein or Rho GTPase, is not a factor in the medical field but rather a term used in molecular biology and genetics. It refers to a type of small GTP-binding protein that plays a crucial role in regulating actin dynamics and controlling various cellular processes such as cytokinesis, gene transcription, and cell cycle progression.

In the context of medicine, Rho GTPases have been implicated in several diseases, including cancer, neurological disorders, and cardiovascular diseases. For instance, abnormal Rho GTPase activity has been associated with tumor growth, invasion, and metastasis, making them potential therapeutic targets for cancer treatment.

Therefore, while the Rho factor itself is not a medical term, its role in cellular processes and disease pathophysiology is of great interest to medical researchers and clinicians.

Von Willebrand factor (vWF) is a large multimeric glycoprotein that plays a crucial role in hemostasis, the process which leads to the cessation of bleeding and the formation of a blood clot. It was named after Erik Adolf von Willebrand, a Finnish physician who first described the disorder associated with its deficiency, known as von Willebrand disease (vWD).

The primary functions of vWF include:

1. Platelet adhesion and aggregation: vWF mediates the initial attachment of platelets to damaged blood vessel walls by binding to exposed collagen fibers and then interacting with glycoprotein Ib (GPIb) receptors on the surface of platelets, facilitating platelet adhesion. Subsequently, vWF also promotes platelet-platelet interactions (aggregation) through its interaction with platelet glycoprotein IIb/IIIa (GPIIb/IIIa) receptors under high shear stress conditions found in areas of turbulent blood flow, such as arterioles and the capillary bed.

2. Transport and stabilization of coagulation factor VIII: vWF serves as a carrier protein for coagulation factor VIII (FVIII), protecting it from proteolytic degradation and maintaining its stability in circulation. This interaction between vWF and FVIII is essential for the proper functioning of the coagulation cascade, particularly in the context of vWD, where impaired FVIII function can lead to bleeding disorders.

3. Wound healing: vWF contributes to wound healing by promoting platelet adhesion and aggregation at the site of injury, which facilitates the formation of a provisional fibrin-based clot that serves as a scaffold for tissue repair and regeneration.

In summary, von Willebrand factor is a vital hemostatic protein involved in platelet adhesion, aggregation, coagulation factor VIII stabilization, and wound healing. Deficiencies or dysfunctions in vWF can lead to bleeding disorders such as von Willebrand disease.

The endolymphatic sac is a small, fluid-filled structure that is part of the inner ear. It is located near the vestibular aqueduct and is responsible for maintaining the balance of fluids in the inner ear. The endolymphatic sac also plays a role in the resorption of endolymph, which is the fluid that fills the membranous labyrinth of the inner ear. Disorders of the endolymphatic sac can lead to conditions such as Meniere's disease, which is characterized by vertigo, hearing loss, and tinnitus.

The broad ligament is a wide, flat fold of peritoneum (the serous membrane that lines the abdominal cavity) that supports and suspends the uterus within the pelvic cavity. It consists of two layers - the anterior leaf and the posterior leaf - which enclose and protect various reproductive structures such as the fallopian tubes, ovaries, and blood vessels.

The broad ligament plays a crucial role in maintaining the position and stability of the uterus, allowing for proper functioning of the female reproductive system. It also serves as a conduit for nerves, blood vessels, and lymphatics that supply and drain the uterus and other pelvic organs.

Anomalies or pathologies of the broad ligament, such as cysts, tumors, or inflammation, can potentially lead to various gynecological conditions and symptoms, requiring medical evaluation and intervention if necessary.

A serous cystadenoma is a type of benign tumor that arises from the epithelial cells lining the serous glands, which are glands that produce a watery, lubricating fluid. This type of tumor typically develops in the ovary or the pancreas.

Serous cystadenomas of the ovary are usually filled with a clear, watery fluid and have multiple loculations (compartments). They can vary in size from a few millimeters to several centimeters in diameter. Although these tumors are benign, they can cause symptoms if they become large enough to press on surrounding organs or if they rupture and release their contents into the abdominal cavity.

Serous cystadenomas of the pancreas are less common than ovarian serous cystadenomas. They typically occur in the tail of the pancreas and can range in size from a few millimeters to several centimeters in diameter. These tumors are usually asymptomatic, but they can cause symptoms such as abdominal pain or discomfort if they become large enough to press on surrounding organs.

It is important to note that while serous cystadenomas are generally benign, there is a small risk that they may undergo malignant transformation and develop into a type of cancer known as a serous cystadenocarcinoma. For this reason, it is important for patients with these tumors to be followed closely by a healthcare provider and to have regular imaging studies and/or surgical excision to monitor for any changes in the tumor.

Angiomatosis is a medical term that refers to a benign condition characterized by the proliferation of blood vessels in various tissues and organs. It is typically composed of small, tangled blood vessels called capillaries, which can form clusters or networks. The condition can affect skin, internal organs, bones, and other tissues.

Angiomatosis is often asymptomatic and may be discovered incidentally during medical imaging or surgical procedures. In some cases, it may cause symptoms such as pain, swelling, or bleeding, depending on the location and extent of the lesions.

While angiomatosis is generally a benign condition, in rare cases, it can be associated with malignant tumors or other medical conditions. Treatment options for angiomatosis depend on the size, location, and symptoms of the lesions and may include observation, medication, or surgical removal.

GeneReviews/NCBI/NIH/UW entry on Von Hippel-Lindau Syndrome Von Hippel-Lindau Disease (VHL) at NINDS Von Hippel-Lindau syndrome ... Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder with multisystem ... "Von Hippel-Lindau Syndrome". Von Hippel-Lindau Disease. PMID 20301636. Retrieved 30 March 2013. {{cite book}}: ,work= ignored ( ... Arvid Lindau described the angiomas of the cerebellum and spine in 1927. The term Von Hippel-Lindau disease was first used in ...
... von Hippel-Lindau Disease Von+Hippel-Lindau+Tumor+Suppressor+Protein at the U.S. National Library of Medicine Medical Subject ... "Entrez Gene: VHL von Hippel-Lindau tumor suppressor". Czyzyk-Krzeska MF, Meller J (April 2004). "von Hippel-Lindau tumor ... Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH (June 2003). "von Hippel-Lindau disease". Lancet. ... Mutations of the VHL gene are associated with Von Hippel-Lindau disease, which is characterized by hemangioblastomas of the ...
Von Hippel-Lindau disease is a dominantly inherited cancer syndrome that significantly increases the risk of various tumors. ... Maher ER (December 2004). "Von Hippel-Lindau disease". Current Molecular Medicine. 4 (8): 833-842. doi:10.2174/1566524043359827 ... It is caused by genetic mutations in the Von Hippel-Lindau tumor suppressor gene. The VHL protein (pVHL) is involved in ... Cotran R, Kumar V, Collins T (1999). Robbins Pathologic Basis of Disease (6th ed.). W.B. Saunders. ISBN 0-7216-7335-X. Zuber M ...
Patients who succumb to the disease, usually do so because of other tumors within the von Hippel-Lindau complex rather than ... Jan-Feb 2008). "Imaging features of von Hippel-Lindau disease". Radiographics. 28 (1): 65-79. doi:10.1148/rg.281075052. PMID ... Jul 2001). "Endolymphatic sac tumor associated with a von Hippel-Lindau disease patient: an immunohistochemical study". Mod. ... Jun 1998). "Molecular genetic analysis of von Hippel-Lindau disease". Journal of Internal Medicine. 243 (6): 527-33. doi: ...
Hodgson TS, Nielsen SM, Lesniak MS, Lukas RV (September 2016). "Neurological Management of Von Hippel-Lindau Disease". The ... Inherited conditions, such as Von Hippel-Lindau disease, tuberous sclerosis, multiple endocrine neoplasia, and ... and von Hippel-Lindau Disease. Studies on mobile phone exposure have not shown a clear risk. The most common types of primary ... People with celiac disease have a slightly increased risk of developing brain tumors. Smoking has been suggested to increase ...
Von Hippel-Lindau (VHL) disease is an autosomal dominant condition caused by mutations of the VHL gene. Approximately one-in- ... Leung RS, Biswas SV, Duncan M, Rankin S (2008). "Imaging features of von Hippel-Lindau disease". Radiographics. 28 (1): 65-79, ... Maher, Eamonn R.; Neumann, Hartmut Ph; Richard, Stéphane (2011-03-09). "von Hippel-Lindau disease: a clinical and scientific ... "Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature". Journal of ...
He had become interested in Von Hippel-Lindau disease (VHL). VHL tumors, caused by gene mutation, were known to be angiogenic, ... His major work has been on the retinoblastoma, von Hippel-Lindau, and p53 tumor suppressor genes. His work has been funded by ... lab at DFCI down the hall from Livingston's where he investigated hereditary forms of cancer such as von Hippel-Lindau disease ... William G. Kaelin Jr on Nobelprize.org including the Nobel Lecture 7 December 2019 The von Hippel-Lindau Tumor Suppressor ...
Von Hippel-Lindau disease results from a mutation in the von Hippel-Lindau tumor suppressor gene on chromosome 3p25.3. ... Von Hippel-Lindau disease is a rare, autosomal dominant genetic condition that predisposes individuals to benign and malignant ... Richard, S; Gardie, B; Couvé, S; Gad, S (May 30, 2012). "Von Hippel-Lindau: How a rare disease illuminates cancer biology". ... The most common tumors in Von Hippel-Lindau disease are central nervous system and retinal hemangioblastomas, clear cell renal ...
... , sold under the brand name Welireg, is an anti-cancer medication used for the treatment of von Hippel-Lindau disease ... Belzutifan is indicated for treatment of adults with von Hippel-Lindau (VHL) disease who require therapy for associated renal ... November 2021). "Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease". The New England Journal of Medicine. 385 ( ... "FDA Grants Priority Review to Belzutifan for von Hippel-Lindau Disease-Associated RCC". Cancer Network. 16 March 2021. ...
Von Hippel-Lindau disease Birt-Hogg-Dube syndrome Tolvanen, J.; Uimari, O.; Ryynanen, M.; Aaltonen, L. A.; Vahteristo, P. (2012 ... Other relatively rare conditions have been reported in association with this disease. It is not yet known if these associations ... A case of cutis verticis gyrata, disseminated collagenoma and Charcot-Marie-Tooth disease in association with a mutation in the ... Reed syndrome and Hereditary leiomyomatosis and renal cell cancer at the Genetic and Rare Diseases Information Center (GARD) ( ...
"Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease ... The human pVHL is mutated in von Hippel-Lindau hereditary disease, and in majority of sporadic clear cell renal carcinomas. ... "Identification of the von Hippel-Lindau disease tumor suppressor gene". Science. 260 (5112): 1317-20. Bibcode:1993Sci... ... "Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma". Human ...
Von Hippel-Lindau disease Von Hippel-Lindau tumor suppressor VHL Family Alliance (biography of Eugen von Hippel) In German ... Eugen is the son of Arthur von Hippel (physician), brother of Robert von Hippel and Richard von Hippel, and uncle of Arthur R. ... This condition is known today as Von Hippel-Lindau disease (VHL). Hippel contributed several writings to textbooks regarding ... anatomy and diseases of the eye. He was the son of Arthur von Hippel (1841-1916), a pioneer in corneal transplantation, and an ...
... "von Hippel-Lindau-associated malignancies: Mechanisms and therapeutic opportunities". Drug Discovery Today: Disease Mechanisms ... "Haemangioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL Study Group". J. Intern. Med. 243 (6 ... In VHL syndrome the von Hippel-Lindau protein (pVHL) is dysfunctional, usually due to mutation and/or gene silencing. In normal ... They may be associated with other diseases such as polycythemia (increased blood cell count), pancreatic cysts and Von Hippel- ...
Intramedullary hemangioblastomas can be seen in patients with von Hippel-Lindau disease. Spinal cord lymphomas are commonly ... and Von-Hippel Lindau (VHL) syndrome. The most common type of intradural-extramedullary tumors are meningiomas and nerve-sheath ... Loss of bowel and bladder control may occur during the later stages of the disease. The cause of spinal tumors is unknown. Most ... Spinal Cord Diseases. 31 (1): 241-268. doi:10.1016/j.ncl.2012.09.011. ISSN 0733-8619. PMID 23186903. Nambiar, Mithun; Kavar, B ...
"A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease. Diseases possibly derived from ... including polycystic kidney disease, chronic obstructive pulmonary disease, Fabry disease, and the porphyrias. Tishler was born ... Peter Verveer Tishler, M.D. (July 18, 1937 - January 18, 2021) is a researcher in human genetics and orphan diseases, educator ... who went on to become a noted physician specializing in the genetics associated with diseases, and Carl Lewis Tishler. "Max ...
Von Hippel-Lindau disease: It can be associated with Von Hippel-Lindau disease and is a rare genetic multi-system disorder ... "angiomatosis" at Dorland's Medical Dictionary "Von Hippel-Lindau Disease (VHL) Information Page". www.ninds.nih.gov. National ...
Belzutifan is an hypoxia-inducible factor-2α inhibitor under investigation for the treatment of von Hippel-Lindau disease- ... "FDA Grants Priority Review to Belzutifan for von Hippel-Lindau Disease-Associated RCC". Cancer Network. Retrieved 2021-04-26. ... Okumura CY, Hollands A, Tran DN, Olson J, Dahesh S, von Köckritz-Blickwede M, et al. (September 2012). "A new pharmacological ... Cases A (December 2007). "The latest advances in kidney diseases and related disorders". Drug News & Perspectives. 20 (10): 647 ...
Patient-specific factors influence somatic variation patterns in von Hippel-Lindau disease renal tumours. Nature communications ...
Von Hippel-Lindau tumor suppressor Von Hippel-Lindau disease Eugen von Hippel Arvid Lindau "UniProt". beta.uniprot.org. ... also Von Hippel-Lindau binding protein 1, is a prefoldin chaperone protein that binds to von Hippel-Lindau protein and ... von+Hippel-Lindau+binding+protein+1,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) v t e ( ... Tsuchiya H, Iseda T, Hino O (1996). "Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor ...
... in this case the disease has a hereditary, autosomal dominant transmission (von Hippel Lindau disease).[citation needed] The ... stable disease (is not described by a, b, or d) d. progressive disease, defined as 25% increase in size of one or more ... The patient's general status correlates with the underlying disease (vascular and parenchymal decompensation for liver ... if the liver is normal or if there is evidence of diffuse liver disease) and the developing context (oncology, septic) are also ...
"Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease". JAMA. 298 (1 ... If the inner ear is damaged by disease or injury, the volume and composition of the endolymph fluid can change, causing the ... Individuals who have Ménière's disease have a degree of endolymphatic hydrops that is strong enough to trigger the symptoms of ... Gürkov R, Pyykö I, Zou J, Kentala E (2016). "What is Menière's disease? A contemporary re-evaluation of endolymphatic hydrops ...
"Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location". Human Mutation. ... "Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients". Human ...
"Mosaicism in von Hippel-Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic ... If the disease is a result of pure germline mosaicism, then the disease causing mutant allele would never be present in the ... An individual may still be a carrier for a certain disease even if the disease causing mutant allele is not present in the ... Various diseases are now being re-examined for presence of mutant alleles in the germline of the parents in order to further ...
... include Von Hippel-Lindau disease and Neurofibromatosis 2. Von Hippel-Lindau disease is a non-cancerous tumor of blood vessels ... Spinal disease also includes cervical spine diseases, which are diseases in the vertebrae of the neck. A lot of flexibility ... This disease is less common in younger people as it is usually a function of aging. Scoliosis is a common spinal disease in ... Spinal disease refers to a condition impairing the backbone. These include various diseases of the back or spine ("dorso-"), ...
Increased miR-765 expression is observed in Von Hippel-Lindau disease compared with the sporadic benign forms of ...
Only 2-4% of the cases presenting as part of an inherited cancer syndrome, such as von Hippel-Lindau disease. Clear-cell renal- ... Alterations of chromosome 3p segments occurs in 70-90% of CCRCCs Inactivation of von Hippel-Lindau disease (VHL) gene by gene ...
Eugen von Hippel, described the ophthalmic hemangiomata that are part of Von Hippel-Lindau disease, which bears his name. von ... Von Hippel was born in Rostock, Mecklenburg-Schwerin, on November 19, 1898, and was the son of Robert von Hippel. He graduated ... von Hippel is a theoretical physicist and professor of Public Policy at Princeton University. Another son, Eric von Hippel, is ... link from Google Books Arthur von Hippel Memorial Web Site Autobiography of Arthur Robert von Hippel (Webarchive template ...
HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease ... The VHL (Von Hippel-Lindau) gene encodes a component of an E3 ubiquitin ligase. VHL complex targets a member of the hypoxia- ... Von Hippel-Lindau syndrome involves disruption of a ubiquitin E3 ligase termed the VHL tumor suppressor, or VHL gene. Fanconi ... including Alzheimer's disease, motor neuron disease, Huntington's disease and Parkinson's disease. Transcript variants encoding ...
Hereditary bilateral, multifocal kidney tumors similar to those seen in BHD can occur with von Hippel-Lindau disease (clear ... These include tuberous sclerosis, which causes skin lesions similar to fibrofolliculomas, and Von Hippel-Lindau disease, which ... The disease was discovered in 1977, but the connection with FLCN was not elucidated until 2002, after kidney cancer, collapsed ... Genes related to FLCN and diseases similar to BHD have been found in dogs, fruit flies, rats, and mice. In German Shepherd dogs ...
He also has published research on the genetics of Von Hippel-Lindau disease, a condition which predisposes a person to ...
GeneReviews/NCBI/NIH/UW entry on Von Hippel-Lindau Syndrome Von Hippel-Lindau Disease (VHL) at NINDS Von Hippel-Lindau syndrome ... Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder with multisystem ... "Von Hippel-Lindau Syndrome". Von Hippel-Lindau Disease. PMID 20301636. Retrieved 30 March 2013. {{cite book}}: ,work= ignored ( ... Arvid Lindau described the angiomas of the cerebellum and spine in 1927. The term Von Hippel-Lindau disease was first used in ...
... genetic disease that causes tumors and cysts to grow in your body. ... Von Hippel-Lindau disease (VHL) is a rare, ... What is Von Hippel-Lindau disease (VHL)?. Von Hippel-Lindau ... What causes Von Hippel-Lindau disease (VHL)?. Von Hippel-Lindau disease (VHL) is a genetic disease. It is inherited, which ... How is Von Hippel-Lindau disease (VHL) diagnosed?. Detecting and treating VHL early is important. Your health care provider may ...
... disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in ... Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (bl... ... encoded search term (von Hippel-Lindau Disease) and von Hippel-Lindau Disease What to Read Next on Medscape ... von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and ...
... disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in ... Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (bl... ... encoded search term (von Hippel-Lindau Disease) and von Hippel-Lindau Disease What to Read Next on Medscape ... von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and ...
About Von Hippel-Lindau (VHL) Disease. Von Hippel-Lindau disease (VHL) is a rare genetic disorder characterized by abnormal ... Von Hippel-Lindau Disease Clinical Care Center. Menu Skip to Main Content *Cancer Types & Treatments ...
Learn about a rare and systemic genetic syndrome called von Hippel-Lindau (VHL) disease and its incidence. ... Von Hippel-Lindau disease. https://rarediseases.org/rare-diseases/von-hippel-lindau-disease/. Accessed September 7, 2022. 5. US ... VHL DISEASE 1-3. Von Hippel-Lindau (VHL) disease is a systemic and cyclical rare disease that can affect patients through a ... Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease. Urology. 2007;70(3):435-439. 3. VHL Alliance. What ...
Von Hippel-Lindau disease. Synonyms: Familial cerebelloretinal angiomatosis , Lindau disease , VHL , Von Hippel-Lindau syndrome ... Von Hippel-Lindau disease?. Our RARE Concierge Services Guides are available to assist you by providing information, resources ... Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign ... Von Hippel-Lindau disease. Get in touch with RARE Concierge.. Contact RARE Concierge ...
von Hippel-Lindau disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/von-hippel-lindau-disease. ... Von Hippel-Lindau disease (VHL) is when blood vessels grow in a small knot instead of in branches. The knot forms a growth or ... Von Hippel-Lindau Disease. 2018 Sep 12. In: Feingold KR, Anawalt B, et al. Endotext [Internet]. South Dartmouth (MA): MDText. ...
... disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in ... Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (bl... ... encoded search term (von Hippel-Lindau Disease) and von Hippel-Lindau Disease What to Read Next on Medscape ... von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and ...
... disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and benign tumors in ... Clinical hallmarks of VHL disease include the development of retinal and central nervous system (CNS) hemangioblastomas (bl... ... encoded search term (von Hippel-Lindau Disease) and von Hippel-Lindau Disease What to Read Next on Medscape ... von Hippel-Lindau (VHL) disease, or von Hippel-Lindau syndrome, is a rare genetic disorder characterized by visceral cysts and ...
Immunological Aspects of von Hippel-Lindau Disease: Overlap With Myasthenia Gravis Diagnostics (Basel) · February 16, 2023 ... Immunological Aspects of von Hippel-Lindau Disease: Overlap With Myasthenia Gravis Diagnostics (Basel) · February 16, 2023 ... Belzutifan for the Treatment of von Hippel-Lindau Disease: Changes in Management and Future Challenges Neuro-oncology · April ... Selective HIF2A Inhibitors in the Management of Clear Cell Renal Cancer and von Hippel-Lindau Disease-Associated Tumors Med Sci ...
We use cookies to ensure that we give you the best experience on our website. If you click Accept all cookies well assume that you are happy to receive all cookies and you wont see this message again. If you click Reject all non-essential cookies only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click Find out more for information on how to change your cookie settings. ...
Von Hippel-Lindau Disease (VHL) - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical ... What is von Hippel-Lindau disease? Von Hippel-Lindau disease is a genetic disorder What is a genetic disorder? Your genes are ... What causes von Hippel-Lindau disease? Von Hippel-Lindau disease is a genetic disorder What is a genetic disorder? Your genes ... How can I prevent von Hippel-Lindau disease? Usually this disease cannot be prevented. ...
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited multisystem cancer syndrome with a predilection for the ... Some patients with von Hippel angioma will have a family history of this disease. Von Hippel angioma are usually visible by ... For treatment of Von Hippel retinal angiomas, see Conditions (Von Hippel Angioma) However, in ths section we will discuss the ... von Hippel-Lindau disease. Surv Ophthalmol. 2001;46:117-142.. *Vail D. Angiomatosis retinae, eleven years after diathermy ...
Von Hippel-Lindau (VHL) disease. This is a rare family syndrome and people who have this condition have a higher risk of ... Carcinoid heart disease. If high levels of the hormone serotonin are produced over a long time, this can cause thickening of ... This disease particularly affects the skin and the nervous system.. N-terminal pro-brain natriuretic peptide (NT-ProBNP). The ...
Recent Advances in the Management of von Hippel Lindau Disease - Ramaprasad Srinivasan MD, PhD. ... where her thesis research focused on the impact of von Hippel-Lindau disease on the lives of young adults. ... Integrative Health Approaches for von Hippel Lindau Patients and Families - Holly Spraker-Perlman MD, MS. (This session is an ... von Hippel Lindau Alliance (VHLA)- An organization dedicated to research, education, and support to improve awareness, ...
von Hippel-Lindau (VHL) disease is a rare hereditary kidney cancer syndrome characterized by a poor survival. Although genotype ... Risk factors for survival in patients with von Hippel-Lindau disease. View Poster ... MP36-14: Risk factors for survival in patients with von Hippel-Lindau disease. ...
Pathogenic germline mutations in VHL gene cause von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary cancer ... The road to systemic therapy in von Hippel-Lindau (VHL) disease: Are we there yet?. ... BelzutifanHereditary cancer syndromeVHL diseaseTurajlic CC20441112 Oncology and Carcinogenesis1117 Public Health and Health ... In this personal view article, we reflect on the history of the use of systemic therapy in localised VHL disease and consider ...
Seven of these had peripheral disease with rapid recurrences. Two had untreated disc tumours. Tumours less than 1 disc diameter ... The ocular manifestations of a large von Hippel-Lindau pedigree are presented. Of 24 persons with retinal angiomas, 18 are ... The ocular manifestations of a large von Hippel-Lindau pedigree are presented. Of 24 persons with retinal angiomas, 18 are ... Retinal Diseases, von Hippel-Lindau Disease ... the ocular manifestations of von Hippel-Lindau disease. Ridley ...
Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease. Korean Journal of Urology. ... Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease. / Kim, Won Tae; Ham, Won ... Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease. In: Korean Journal of ... title = "Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease", ...
... ... Selective HIF2A Inhibitors in the Management of Clear Cell Renal Cancer and Von Hippel-Lindau-Disease-Associated Tumors. ... Selective HIF2A Inhibitors in the Management of Clear Cell Renal Cancer and Von HippelLindau-Disease-Associated Tumors. ... Von Hippel-Lindau (VHL) loss is the hallmark event characterizing the clear cell renal cancer subtype (ccRCC). Carriers of ...
Publications for the trial NCT00005902
Learn how to maximize the quality of life for children with these diseases. ... von Hippel-Lindau Disease (VHL). Symptoms vary widely from condition to condition, and they affect different kids in different ... A genetic counselor also can provide information about genetic testing and the risk of passing the disease on to another child. ... Often, the full effects of these diseases - even if detected at birth - dont emerge until a child grows up. The educational, ...
von Hippel-Lindau disease. *Birt-Hogg-Dube (BHD) syndrome. *hereditary leiomyoma-renal cell carcinoma ... Anemia in chronic kidney disease. (2020).. https://www.niddk.nih.gov/health-information/kidney-disease/anemia. ... https://www.niddk.nih.gov/health-information/urologic-diseases/hematuria-blood-urine. ...
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease , BMC Medical Genetics , Full Text. BMC ... Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor ... A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease , BMC Medical Genetics , Full Text ... A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease. ...
Von Hippel-Lindau disease with renal cell carcinoma and multiple cerebellar and spinal hemangioblastomas without retinal ... There was reported history of Von Hippel-Lindau disease (VHL) in his mother, who was operated for a cerebellar hemangioblastoma ...
Doença de von Hippel-Lindau/complicações; Doença de von Hippel-Lindau/tratamento farmacológico; Doença de von Hippel-Lindau/ ... genética; Proteína Supressora de Tumor Von Hippel-Lindau/genética; Proteína Supressora de Tumor Von Hippel-Lindau/metabolismo ... Selective HIF2A Inhibitors in the Management of Clear Cell Renal Cancer and Von Hippel-Lindau-Disease-Associated Tumors. ... Von Hippel-Lindau (VHL) loss is the hallmark event characterizing the clear cell renal cancer subtype (ccRCC). Carriers of ...
Treatment of adult patients with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma (RCC ... Treatment of adult patients with von Hippel-Lindau (VHL) disease who require therapy for associated renal cell carcinoma (RCC ... Treatment of von Hippel-Lindau disease Orphan Designation Status: Designated/Approved Sponsor: Merck Sharp & Dohme, LLC. 126 ...
... which is initiated by hydroxylation of specific proline residues followed by binding of von Hippel-Lindau (VHL) protein. ... This study explores the phenotype of two other HIF pathway diseases: classic VHL disease and HIF-2α gain-of-function mutation. ... In classic VHL disease, patients are germline heterozygous for mutations in VHL, and the present results suggest that a single ... No cardiopulmonary abnormalities were detected in classic VHL disease. HIF-2α gain-of-function mutations were associated with ...
  • Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. (medlineplus.gov)
  • 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)
  • 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)
  • Tumors involving other organs and the CNS (brain, spinal cord) are present in 25% of patients with VHL disease. (medscape.com)
  • Tumors in von Hippel-Lindau syndrome: from head to toe-comprehensive state-of-the-art review. (vhldisease.com)
  • If these tests suggest von Hippel-Lindau disease, doctors do other imaging tests to look for other tumors. (msdmanuals.com)
  • Suárez C, Vieito M, Valdivia A, González M, Carles J. Selective HIF2A Inhibitors in the Management of Clear Cell Renal Cancer and Von Hippel–Lindau-Disease-Associated Tumors. (gencat.cat)
  • The analysis revealed a hypoxia-inducible factor (HIF)-related signature common to succinate dehydrogenase (SDH) and von Hippel-Lindau (VHL) tumors, that differentiated them from RET and neurofibromatosis type 1 cases. (nih.gov)
  • 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)
  • 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)
  • 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 (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. (blogspot.com)
  • Mus musculus von Hippel-Lindau tumor suppressor (Vhl), mRNA. (genscript.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)
  • 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)
  • For this reason, individuals with VHL disease are usually screened routinely for retinal angiomas, CNS hemangioblastomas, clear-cell renal carcinomas and pheochromocytomas. (wikipedia.org)
  • 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)
  • Pathogenic germline mutations in VHL gene cause von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary cancer syndrome associated with high penetrance of benign and malignant neoplasms, including clear cell renal cell carcinoma (ccRCC), central nervous system haemangioblastomas (CNS-HB), retinal angiomas, phaeochromocytomas and pancreatic neuroendocrine tumours (pNET). (figshare.com)
  • Purpose: To analyze the clinical characteristics of renal cell carcinoma (RCC) in Korean patients with von Hippel-Lindau (VHL) disease. (elsevierpure.com)
  • Von Hippel-Lindau (VHL) loss is the hallmark event characterizing the clear cell renal cancer subtype (ccRCC). (gencat.cat)
  • HIF-2 alpha inhibitors are transforming therapy for patients with renal cell carcinoma and von Hippel-Lindau disease. (curetoday.com)
  • Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder with multisystem involvement. (wikipedia.org)
  • A review of von Hippel-Lindau syndrome. (vhldisease.com)
  • Interested in receiving weekly updates about Von Hippel-Lindau Syndrome? (practiceupdate.com)
  • 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)
  • On December 2- 3, 2021 the Division of Cancer Predisposition at St. Jude Children's Research Hospital held its annual Family and Provider Conference on Cancer Predisposition, with this year's conference focusing on Von Hippel Lindau (VHL) Syndrome. (stjude.org)
  • von Hippel-Lindau (VHL) disease is a rare hereditary kidney cancer syndrome characterized by a poor survival. (auanet.org)
  • Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. (endocrine-abstracts.org)
  • VHL disease is inherited in an autosomal-dominant Mendelian pattern. (medscape.com)
  • VHL disease is an autosomal dominant disease with a prevalence of 1 in 36,000 in the United States. (renalandurologynews.com)
  • Genetic diagnosis is also useful in VHL disease diagnosis. (wikipedia.org)
  • Von Hippel-Lindau disease (VHL) is a genetic disease. (medlineplus.gov)
  • 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)
  • If you have von Hippel-Lindau disease in your family and you're planning on having children, you can get genetic tests to see if you carry the gene that can cause this disease. (msdmanuals.com)
  • Genetic counseling can help determine the risk of your child having the disease. (msdmanuals.com)
  • Her overarching goals are to understand how defects in these mechanisms contribute to disease and use this information to develop more effective treatments for children with increased genetic risk for infection and/or malignancy. (stjude.org)
  • A genetic counselor also can provide information about genetic testing and the risk of passing the disease on to another child. (kidshealth.org)
  • Cancer is a complex genetic disease caused by abnormal alteration (mutations) in DNA sequences that leads to dyregulation of normal cellular processes thereby driving tumor growth. (intechopen.com)
  • The genetic abnormality associated with VHL disease is the loss of chromosomes at 3p25-26. (renalandurologynews.com)
  • Wilson's disease is a rare genetic disorder that prevents a patient's body from getting rid of excess copper. (naturalpedia.com)
  • Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system. (riken.jp)
  • Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis/occlusion. (riken.jp)
  • In hereditary VHL disease, techniques such as the Southern blot and gene sequencing can be used to analyse DNA and identify mutations. (wikipedia.org)
  • 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)
  • Spinal hemangioblastomas are found in 13-59% of VHL disease and are specific because 80% are found in VHL disease. (wikipedia.org)
  • 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)
  • What are the symptoms of Von Hippel-Lindau disease (VHL)? (medlineplus.gov)
  • What are the treatments for Von Hippel-Lindau disease (VHL)? (medlineplus.gov)
  • 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)
  • The mutation segregated with the disease phenotype throughout three generations. (blogspot.com)
  • This study explores the phenotype of two other HIF pathway diseases: classic VHL disease and HIF-2α gain-of-function mutation. (ox.ac.uk)
  • Scholars@Duke publication: A novel mutation in the von Hippel-Lindau gene. (duke.edu)
  • Angiomatosis occurs in 37.2% of patients presenting with VHL disease and usually occurs in the retina. (wikipedia.org)
  • Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease. (ox.ac.uk)
  • The image below illustrates a hemangioblastoma of the retina as found in patients with VHL disease. (medscape.com)
  • 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)
  • Among the 21 patients with VHL disease, 6 (28.6%) patients had retinal angioma, 18 (85.7%) had cerebellar hemangioblastoma, 15 had pancreatic lesions, including 13 with a pancreatic cyst and two with a pancreatic mass. (elsevierpure.com)
  • There was reported history of Von Hippel-Lindau disease (VHL) in his mother, who was operated for a cerebellar hemangioblastoma. (ijhnp.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)
  • 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)
  • 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)
  • 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)
  • The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. (blogspot.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)
  • By combining these samples with blood samples, it is possible to analyze somatic mutations, which are important for the initiation and development of the disease. (riken.jp)
  • 160 disease terms (MeSH) has been reported with HIF1A gene. (cdc.gov)
  • The goal of our laboratory is to elucidate the susceptibility genes and modifier genes of these diseases to elucidate their pathogenesis. (riken.jp)
  • Because VHL disease is a multiple-organ disease that widely varies in clinical presentation, various manifestations may lead to diagnosis. (medscape.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)
  • 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)
  • The ocular manifestations of a large von Hippel-Lindau pedigree are presented. (ox.ac.uk)
  • Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease. (vhldisease.com)
  • 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)
  • Belzutifan is a second-generation small molecule hypoxia-inducible factor 2α (HIF-2α) inhibitor recently approved by US and UK regulators for the treatment of VHL (disease)-associated ccRCC, CNS-HB and pNET. (figshare.com)
  • Adbry (tralokinumab) (molecular weight [MW], 147 kilodaltons), is indicated for the treatment of moderate to severe atopic dermatitis in adult patients whose disease is not adequately controlled with topical prescription therapies or when those therapies are not advisable. (medscape.com)
  • Korsuva (difelikefalin) (MW, 679) is a kappa opioid-receptor agonist indicated for the treatment of moderate to severe pruritus associated with chronic kidney disease in adults undergoing hemodialysis. (medscape.com)
  • It is indicated for maintenance treatment of adults with deleterious or suspected deleterious gBRCAm metastatic pancreatic adenocarcinoma whose disease has not progressed on at least 16 weeks of a first-line platinum-based chemotherapy regimen. (medscape.com)
  • Precise detection and diagnosis of specific tumor types and disease stages is essential for designing the appropriate and effective regimens for treatment. (aspetjournals.org)
  • In cases of cerebrovascular disease and intractable epilepsy where such neurosurgery is essential for treatment, tissue (vascular and brain tissue) is obtained that is removed for treatment during surgery. (riken.jp)
  • People with von Hippel-Lindau disease are at risk of kidney cancer as they get older. (msdmanuals.com)
  • Kerendia (finerenone) (MW, 378), is indicated to reduce the risk of kidney and heart complications in chronic kidney disease associated with type 2 diabetes. (medscape.com)
  • Although all of these tumours are common in VHL disease, around half of cases present with only one tumour type. (wikipedia.org)
  • SIGNIFICANCE STATEMENT Radiolabeled meta -iodobenzylguanidine (mIBG) has been used as a diagnostic tool and as radiotherapy for neuroendocrine cancers and other diseases. (aspetjournals.org)
  • In this review, we recapitulate the rationale for HIF2a blockade in ccRCC, summarize the development of HIF2a inhibitors from preclinical models up to its introduction to the clinic with emphasis on Belzutifan, and discuss their role in VHL disease management. (gencat.cat)
  • Olaparib has US Food and Drug Administration (FDA) approval for adults with germline BRCA -mutated metastatic pancreatic adenocarcinoma whose disease has not progressed on at least 16 weeks of a first-line platinum-based chemotherapy regimen. (medscape.com)
  • In patients with RCC related to VHL disease, the clinical characteristics of the tumor, type of pathology and survival were investigated. (elsevierpure.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)
  • Rare diseases at FDA. (vhldisease.com)
  • Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey. (globalgenes.org)
  • VHL disease is characterized by retinal capillary hemangiomas (also called benign vascular hamartomas). (medscape.com)
  • Leqvio (inclisiran) (MW, 17,285) is indicated to treat heterozygous familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease as an add-on therapy. (medscape.com)
  • For a list of clinical trials in this disease area, please click here . (globalgenes.org)
  • Materials and Methods: The clinical characteristics of 21 patients who were diagnosed with VHL disease were analyzed. (elsevierpure.com)
  • 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 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)
  • Conclusions: The incidence of RCC in patients with VHL disease was 42.9%, and the incidence of VHL disease in RCC patients was 0.64% in Korea. (elsevierpure.com)
  • Seven of these had peripheral disease with rapid recurrences. (ox.ac.uk)
  • No cardiopulmonary abnormalities were detected in classic VHL disease. (ox.ac.uk)
  • The road to systemic therapy in von Hippel-Lindau (VHL) disease: Are we there yet? (figshare.com)
  • In this personal view article, we reflect on the history of the use of systemic therapy in localised VHL disease and consider open questions relating to the use of HIF-2α inhibitors, including the need to involve medical oncologists in the multidisciplinary team moving forward. (figshare.com)
  • Systemic chemotherapy and radiopharmaceutical agents such as 131 I-Metaiodobenzylguanidine ( 131 I-MIBG) may cause partial responses or stabilization of disease with better blood pressure control and symptomatic and performance status improvement. (thieme-connect.com)
  • Our ultimate vision is to build a precision medicine system for each disease by investigating the genome information. (riken.jp)
  • If a patient has a solitary retinal capillary hemangioma, they do not necessarily have VHL disease. (eyecancer.com)
  • 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 detection of tumours specific to VHL disease is important in the disease's diagnosis. (wikipedia.org)
  • The diagnosis might be confused with retinal macroaneurysm or adult Coats disease when severe exudation exists. (eyecancer.com)