Disease relevance of Hippel-Lindau Disease

• The VHL tumor suppressor gene is inactivated in patients with von Hippel-Lindau disease and in most sporadic clear cell renal carcinomas [1].
• Hereditary tumor syndromes of the nervous system are a varied group of conditions that include neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis, and von Hippel-Lindau disease, as well as the retinoblastoma susceptibility, Li-Fraumeni, familial glioma, Turcot, Gorlin, Cowden and multiple endocrine neoplasia syndromes [2].
• The von Hippel-Lindau disease gene (VHL) is the causative gene for most adult renal cancers [3].
• Mutations of the VHL gene were described at first in the heritable von Hippel-Lindau disease and in the sporadic Renal Cell Carcinoma (RCC) [4].
• Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma [5].

Psychiatry related information on Hippel-Lindau Disease

• Although the list is exhaustive, we focus our discussion on primary pulmonary hypertension, diabetes mellitus, Alzheimer's disease, Crohn's disease, Von-Hippel-Lindau disease, familial Mediterranean fever, thrombotic microangiopathy, and key vascular malformations [6].

High impact information on Hippel-Lindau Disease

• One patient with von Hippel-Lindau disease had a normal plasma normetanephrine concentration; this patient had a very small adrenal tumor (<1 cm) [7].
• HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8) [8].
• Individuals susceptible to or clinically manifesting von Hippel-Lindau disease (VHL) have a genetic defect telomeric to this region on chromosome 3 [9].
• von Hippel-Lindau disease (VHL [MIM 193300]) is a heritable autosomal dominant multiple-neoplastic disorder with high penetrance [10].
• The basic mechanism of tumorigenesis in HPGL and HLRCC is likely to be pseudo-hypoxic drive, just as it is in von Hippel-Lindau syndrome [11].

Chemical compound and disease context of Hippel-Lindau Disease

• Fifty individuals with Von Hippel-Lindau disease (VHL) were studied with gadolinium-enhanced magnetic resonance imaging (MRI) to determine the frequency and distribution of CNS lesions [12].
• Pheochromocytoma is a neuroendocrine tumor associated with a variety of genetic disorders, which include von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1, hereditary paraganglioma, and succinate dehydrogenase gene-related tumors [13].
• Long-term followup after nephron sparing surgery for renal cell carcinoma in von Hippel-Lindau disease [14].
• PURPOSE: To present a case of rapid and durable recovery of visual function in a patient with von Hippel-Lindau syndrome and optic nerve head hemangioblastoma after systemic treatment with the vascular endothelial growth factor (VEGF) receptor inhibitor SU5416 [15].
• None of our patients had a history of exposure to diethylstilbestrol, cryptorchidism, cystic fibrosis or von Hippel-Lindau disease [16].

Biological context of Hippel-Lindau Disease

• The human VHL tumor suppressor gene has been implicated in the inherited disorder von Hippel-Lindau disease and in sporadic renal carcinoma [17].
• Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease [18].
• VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease [19].
• A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene [20].
• Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours [21].

Anatomical context of Hippel-Lindau Disease

• OBJECTIVES: Isolated reports suggest a possible association of endolymphatic sac tumors (ELSTs), which are extremely rare in the general population, with von Hippel-Lindau disease (VHL) [22].
• Multiple hemangioblastomas (HBs) of the central nervous system (CNS) and retina are associated with von Hippel-Lindau disease (VHL) and also predispose individuals to renal cell carcinomas and visceral cysts [23].
• 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 [24].

Gene context of Hippel-Lindau Disease

• We simultaneously searched for mutations in the Vhl gene, a rat homologue of von Hippel-Lindau disease (VHL) gene, as well as the Tsc2 gene [25].
• Elevated ocular levels of vascular endothelial growth factor in patients with von Hippel-Lindau disease [26].
• The presence and role of somatostatin receptors on the tumours which occur in multiple endocrine neoplasia and von Hippel-Lindau disease are discussed [27].
• 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 [28].
• Thus, Jade-1 is a novel candidate transcriptional co-activator associated with HAT activity and may play a key role in the pathogenesis of renal cancer and von Hippel-Lindau disease [29].

Analytical, diagnostic and therapeutic context of Hippel-Lindau Disease

• Nephron-sparing surgery and renal transplantation in patients with renal cell carcinoma and von Hippel-Lindau disease [30].
• Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL) [31].

References