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von Hippel-Lindau Disease (von Hippel Lindau Disease)

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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.

Also Known As:

von Hippel Lindau Disease; von Hippel-Lindau Syndrome; Syndrome, von Hippel-Lindau; Cerebelloretinal Angiomatosis, Familial; Familial Cerebello-Retinal Angiomatosis; Hippel-Lindau Disease; Lindau's Disease; Angiomatoses, Familial Cerebello-Retinal; Angiomatoses, Familial Cerebelloretinal; Angiomatosis, Familial Cerebello-Retinal; Angiomatosis, Familial Cerebelloretinal; Cerebello-Retinal Angiomatoses, Familial; Cerebello-Retinal Angiomatosis, Familial; Cerebelloretinal Angiomatoses, Familial; Familial Cerebello Retinal Angiomatosis; Familial Cerebello-Retinal Angiomatoses; Familial Cerebelloretinal Angiomatoses; Familial Cerebelloretinal Angiomatosis; Hippel Lindau Disease; Lindau's Diseases; Lindaus Disease; von Hippel Lindau Syndrome; Lindau Disease

Networked: 409 relevant articles (3 outcomes, 27 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Renal Cell Carcinoma (Grawitz Tumor)
2.	Hemangioblastoma
3.	Neurofibromatoses (Neurofibromatosis)
4.	Neurocutaneous Syndromes (Phakomatoses)
5.	Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome)

Experts

1.	Linehan, W Marston: 14 articles (11/2012 - 01/2003)
2.	Neumann, Hartmut P H: 9 articles (09/2012 - 02/2002)
3.	Chew, Emily Y: 8 articles (01/2015 - 01/2007)
4.	Pacak, Karel: 8 articles (05/2012 - 02/2005)
5.	Eisenhofer, Graeme: 6 articles (05/2012 - 02/2005)
6.	Richard, Stéphane: 6 articles (01/2011 - 02/2002)
7.	Chan, Chi-Chao: 5 articles (01/2015 - 01/2007)
8.	Wong, Wai T: 5 articles (12/2012 - 02/2007)
9.	Eng, Charis: 5 articles (06/2012 - 05/2002)
10.	Neumann, H P H: 5 articles (06/2012 - 06/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to von Hippel-Lindau Disease:

1.	Retinaldehyde (Retinal)IBA 06/01/2014 - "Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease." 12/01/2012 - "Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease." 09/01/2008 - "Multiple imaging was obtained because of concern for von Hippel-Lindau disease (VHL) after bilateral retinal angiomas were discovered on ophthalmologic consultation as a follow-up from the Emergency Department. " 05/01/2008 - "Retinal vascular proliferation consisting of fine superficial vessels was found in 16 eyes of 14 patients with von Hippel-Lindau disease. " 05/01/2008 - "Retinal vascular proliferation as an ocular manifestation of von Hippel-Lindau disease."
2.	bevacizumab FDA Link 10/01/2009 - "Preretinal neovascularization after bevacizumab injections in a patient with von Hippel-Lindau syndrome." 03/01/2012 - "Intravitreal bevacizumab (avastin) combined with vitrectomy for recurrences of proliferative vitreoretinopathy in Von Hippel-Lindau disease." 11/01/2010 - "von Hippel-Lindau disease: treatment of retinal haemangioblastomas by targeted therapy with systemic bevacizumab." 01/01/2012 - "To report a patient with retinal capillary hemangioblastomas associated with Von Hippel-Lindau syndrome who achieved long-term visual improvement with single intravitreal bevacizumab injection followed by laser photocoagulation. " 01/01/2012 - "Combined intravitreal bevacizumab with laser photocoagulation is a viable option in retinal capillary hemangioblastomas associated with Von Hippel-Lindau syndrome."
3.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 10/01/1997 - "Elevated ocular levels of vascular endothelial growth factor in patients with von Hippel-Lindau disease." 01/01/2000 - "Clinicopathological study of vascular endothelial growth factor (VEGF), p53, and proliferative potential in familial von Hippel-Lindau disease and sporadic hemangioblastomas." 04/01/2008 - "[Intravitreal anti-VEGF therapy for capillary hemangioblastomas in von Hippel-Lindau disease]." 01/01/2004 - "The long-term prognosis and immunohistochemical findings for the expression of VEGF (vascular endothelial growth factor), p53 protein, and proliferative potential with MIB-1 were evaluated in six patients with VHL (von Hippel-Lindau) disease and seven patients with sporadic hemangioblastomas in relation to recurrent or new central nervous system (CNS) hemangioblastomas following treatment. " 11/01/1998 - "Expression of vascular endothelial growth factor in von Hippel-Lindau syndrome-associated papillary cystadenoma of the epididymis."
4.	Succinate Dehydrogenase (Fumarate Reductase)IBA 06/01/2007 - "According to the literature, between 15 and 25% of apparently sporadic adrenal PCC and sPGL are caused by germline mutations in RET, von Hippel-Lindau disease (VHL), succinate dehydrogenase subunit B (SDHB), or subunit D SDHD. " 06/01/2005 - "Genetically, the patient was negative for MEN2, von Hippel-Lindau disease, and mutations in subunits B, C, and D of the succinate dehydrogenase gene. " 02/01/2013 - "At present, these are RET proto-oncogene, von Hippel-Lindau disease tumor suppressor gene (VHL), neurofibromatosis type 1 tumor suppressor gene (NF1), genes encoding the succinate dehydrogenase (SDH) complex subunits SDHB, SDHC, and SDHD, but also SDHA, the gene encoding the enzyme responsible for the flavination of SDHA (SDHAF2 or hSDH5), and the newly described TMEM127 and MAX tumor suppressor genes. " 09/01/2012 - "Results were available for 29 affected patients (15 females and 14 males), median age 26 (range 9-63) years, comprising three mutation groups: succinate dehydrogenase subunit B or D ([SDHB/D] 16 patients), multiple endocrine neoplasia type 2 ([MEN 2] 6 patients) and von Hippel-Lindau disease ([VHL] 7 patients). " 09/01/2012 - "There was no significant difference in uptake among patients with von Hippel Lindau syndrome (VHL; n = 19), succinate dehydrogenase B-D mutation (n = 21), neurofibromatosis type 1 (n = 1), RET (n = 1), no germline mutation (n = 20), or unknown mutation status (n = 6) (P = 0.84). "
5.	DNA (Deoxyribonucleic Acid)IBA 01/01/1995 - "We now know that TSC is a hamartomatosis, and thanks to studies of recent years using positional cloning and DNA analysis, we are beginning to understand the biological mechanisms of these disorders which include NF1, NF2 and von Hippel-Lindau disease. " 04/01/2013 - "This paper reports the clinical characteristics and prenatal diagnosis of a woman with von Hippel-Lindau syndrome, who constitutes the first exclusion prenatal case by DNA analysis of the Von Hippel-Lindau syndrome in Latin-American population." 02/25/2010 - "DNA analysis may reveal loss of heterozygosity (LOH) at 3p if associated with Von Hippel-Lindau disease. " 10/01/2009 - "Partial and complete VHL gene deletions could be detected in Chinese kindreds with von Hippel-Lindau disease and the test for large deletion of the VHL gene should be implemented in routine DNA diagnosis for VHL disease. " 09/01/2008 - "DNA testing was performed and revealed mutations in the VHL gene previously reported to be associated with von Hippel-Lindau syndrome type II and genetic counseling was recommended. "
6.	sunitinib (Sutent)FDA Link 04/01/2013 - "Words of wisdom: re: pilot trial of sunitinib therapy in patients with von hippel-lindau disease." 12/01/2011 - "Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease." 01/01/2015 - "Use of sunitinib in a 30-year-old woman with pancreatic neuroendocrine tumors associated with Von Hippel-Lindau syndrome." 12/01/2013 - "Sunitinib treatment for metastatic renal cell carcinoma in patients with von hippel-lindau disease." 04/01/2012 - "Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL)."
7.	Messenger RNA (mRNA)IBA 09/01/1997 - "Recent studies suggest that vascular endothelial growth factor (VEGF) mRNA is upregulated in RCC- and von Hippel-Lindau disease-associated tumors. " 11/16/2000 - "In a previous study of hemangioblastomas, the most frequent manifestation of hereditary von Hippel-Lindau disease (VHL), we found elevated levels of vascular endothelial growth factor and HIF-2alpha mRNA in stromal cells of the tumors. " 11/01/1997 - "Because hemangioblastomas develop in patients with von Hippel-Lindau disease, and mutations of the von Hippel-Lindau tumor suppressor (VHL) gene have also been reported in sporadic hemangioblastomas, we investigated VHL expression in normal cerebellum and in hemangioblastomas and tested the hypothesis that mutations in the VHL gene lead to upregulation of VEGE We observed constitutive expression of VHL mRNA, but downregulation of VEGF mRNA in the postnatal cerebellum. "
8.	Islet cell tumor syndromeIBA 05/01/1979 - "Long-term epidemiological and laboratory studies were carried out in a kindred with familial pheochromocytoma associated with von Hippel-Lindau disease. " 06/23/1997 - "Familial pheochromocytoma due to mutant von Hippel-Lindau disease gene." 03/01/1996 - "Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease." 07/01/1995 - "Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von Hippel-Lindau disease-associated, and familial pheochromocytoma." 10/06/1990 - "[Familial pheochromocytoma and Van Hippel-Lindau disease]."
9.	Gadolinium DTPA (Magnevist)FDA Link 07/01/1991 - "Twenty-seven patients with Hippel-Lindau disease or a family history of the disease were examined with both unenhanced and gadopentetate dimeglumine-enhanced magnetic resonance (MR) imaging to study the usefulness of the contrast medium in the evaluation of these patients. " 08/01/1991 - "The case presented illustrates the utility of enhancement with gadolinium diethylenetriaminepenta-acetic acid in magnetic resonance imaging (MRI) of the brain and the spinal cord in a patient with von Hippel-Lindau disease. " 08/01/1991 - "Craniospinal magnetic resonance imaging enhanced with Gd-DTPA in von Hippel-Lindau disease." 07/01/1991 - "The authors conclude that gadopentetate dimeglumine-enhanced MR imaging appears to be a useful method for evaluating and following up patients with Hippel-Lindau disease." 07/01/1991 - "MR imaging of Hippel-Lindau disease: value of gadopentetate dimeglumine."
10.	Turcot syndromeIBA 01/01/1994 - "Such syndromes include neurofibromatosis type 2, neurofibromatosis type 1, Li-Fraumeni syndrome, as well as von Hippel-Lindau disease, tuberous sclerosis, and Turcot syndrome. " 01/01/2012 - "In the present study, we provide a review of the tumors that are associated with neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis complex, von Hippel-Lindau disease, Li-Fraumeni syndrome, Cowden disease, Turcot syndrome, nevoid basal cell carcinoma syndrome (Gorlin syndrome) and rhabdoid predisposition syndrome, which are the most common. "

Therapies and Procedures

1.	Nephrectomy 01/01/2010 - "Combination of right nephrectomy and total pancreaticoduodenectomy for Von Hippel-Lindau disease." 01/01/2008 - "Patients with von Hippel-Lindau disease may require repeat partial nephrectomies to avoid the need for renal replacement therapy. " 09/01/1995 - "His mother also had von Hippel-Lindau disease and was treated by hemodialysis after bilateral nephrectomy. " 05/01/1979 - "Lindau disease treated by bilateral nephrectomy and hemodialysis." 02/01/2014 - "Patients with multiple tumours, prior nephrectomy, von Hippel-Lindau disease, and polycystic kidney disease were excluded. "
2.	Light Coagulation 01/01/1981 - "[Capillary micro-angiography and laser photocoagulation in Hippel-Lindau disease]." 02/01/2007 - "Thermal photocoagulation of small peripheral angiomas is the treatment of choice for capillary hemangiomas in patients with von Hippel-Lindau disease. " 01/01/1959 - "[A case of familial Hippel-Lindau disease associated with an upper cervical ganglion syndrome; treatment by photocoagulation]." 04/01/2004 - "Laser photocoagulation of papillary hemangioma in von Hippel-Lindau disease often causes visual loss. " 01/01/1961 - "Light coagulation in angiomatosis retinae (Von Hippel-Lindau disease): treatment of a case with multiple centra angiomata and a macular hole."
3.	Lasers (Laser) 01/01/1981 - "[Capillary micro-angiography and laser photocoagulation in Hippel-Lindau disease]." 04/01/2004 - "Laser photocoagulation of papillary hemangioma in von Hippel-Lindau disease often causes visual loss. " 11/01/2009 - "A 10-year-old boy with von Hippel-Lindau disease presenting with telangiectasias, endophytic angiomas, and exudative retinal detachment underwent treatment with retrobulbar steroid injection, laser photocoagulation, and photodynamic therapy, which led to improvement of visual acuity." 02/28/2000 - "Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease." 01/01/1996 - "The authors review the histopathologic findings in the eyes of a patient with multiple retinal angiomas and von Hippel-Lindau disease, who underwent treatment with argon laser photocoagulation with follow-up of more than 20 years. "
4.	Renal Dialysis (Hemodialysis) 09/01/1995 - "His mother also had von Hippel-Lindau disease and was treated by hemodialysis after bilateral nephrectomy. " 05/01/1979 - "Lindau disease treated by bilateral nephrectomy and hemodialysis." 03/01/1980 - "The case is also remarkable in that the patient suffered from progressive renal failure requiring hemodialysis, which has not been associated previously with von Hippel-Lindau disease." 03/01/1979 - "The second reported case of bilateral renal cell carcinoma associated with von Hippel-Lindau disease and treated successfully with staged bilateral nephrectomy and hemodialysis is presented, accompanied by a brief review of the literature." 11/01/2000 - "We describe a 40-year-old man with Von Hippel-Lindau disease who had been maintained on hemodialysis for two years following bilateral nephrectomies for renal cell carcinoma. "
5.	Transplantation (Transplant Recipients) 04/01/2011 - "Patients undergoing ex vivo PN with auto-transplantation, patients with Von Hippel-Lindau disease and patients with incomplete follow-up information were excluded from the analysis. " 01/01/1976 - "The author studied 189 patients with the main forms of phakomatosis (Louis-Barre syndrome, Sturge-Weber, Hippel-Lindau disease and Recklinghausens neurofibromatosis.) The use of pathogenetical treatment in the Louis-Barre syndrome (a transplantation of a neonatal thymus with the bone marrow) promoted an improvement in the clinico-immunological indices. "