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VHL
MCID: VNH001
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Von Hippel-lindau Disease malady |
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62 genes, 11 tissues, 568 related diseases, 25 phenotypes, 90 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 23MedlinePlus, 31NINDS, 17Genetics Home Reference, 33OMIM, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NINDS: Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in
certain parts of the body. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood
vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas
of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL
vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance
and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or
tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with
VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.31
MalaCards: Von Hippel-lindau Disease, also known as von hippel-lindau syndrome, is related to neurofibromatosis and endolymphatic sac tumor. An important gene associated with Von Hippel-lindau Disease is VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase), and among its related pathways are Signal transduction_PTEN pathway and Citric acid cycle (TCA cycle). The compounds ly294002 and threonine have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and spinal cord, and related mouse phenotypes are endocrine/exocrine gland and respiratory system. NIH Rare Diseases: Von Hippel-Lindau (VHL) syndrome is a genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The specific tumors that are associated with VHL syndrome include hemangioblastomas (tumors comprised of a nest of blood vessels) of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytoma (a type of noncancerous tumor that affects the adrenal glands, which are the small hormone-producing glands located on top of each kidney); and endolymphatic sac tumors (a type of tumor of the inner ear area called the endolymphatic sac). Mutations in the VHL gene cause von Hippel-Lindau syndrome. These mutations are inherited in an autosomal dominant pattern. Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage.30 MedlinePlus: Von hippel-lindau disease (vhl) is a rare, genetic disease that causes tumors and cysts to grow in your body. the tumors can be either cancerous or benign. they can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. symptoms of vhl vary and depend on the size and location of the tumors. they may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure. detecting and treating vhl early is important. treatment usually involves surgery or sometimes radiation therapy. the goal is to treat growths while they are small and before they do permanent damage. nih: national institute of neurological disorders and stroke23 Genetics Home Reference: Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.17 OMIM: 193300 GeneReviews summary for vhl |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus, 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 193300
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for von hippel-lindau disease Drug clinical trials:Search ClinicalTrials for von hippel-lindau disease Search NIH Clinical Center for von hippel-lindau disease Search CenterWatch for von hippel-lindau disease |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to von hippel-lindau disease:22Brain, Retina, Spinal cord, Kidney, Lung, Pancreas, Adrenal gland, T cells, B cells, Endothelial, Pancreatic islet
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to von hippel-lindau disease:25 (show all 25)
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Sources: 35PubMed See all sources |
Articles related to von hippel-lindau disease:(show top 50) (show all 90)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 38Reactome, 20KEGG, 36QIAGEN, 10EMD Millipore, 34PharmGKB, 3Cell Signaling Technology See all sources |
Pathways related to von hippel-lindau disease according to GeneDecks:(show top 50) (show all 52)
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Sources: 32Novoseek , 18HMDB, 42Tocris Bioscience, 34PharmGKB, 9DrugBank See all sources |
Compounds related to von hippel-lindau disease according to GeneDecks:(show top 50) (show all 218)
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Sources: 12Gene Ontology See all sources |
Cellular components related to von hippel-lindau disease according to GeneDecks:
Biological processes related to von hippel-lindau disease according to GeneDecks:(show all 21)
Molecular functions related to von hippel-lindau disease according to GeneDecks:(show all 9)
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