VHLS
MCID: VNH007
MIFTS: 73
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Von Hippel-Lindau Syndrome (VHLS)
Categories:
Cancer diseases, Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Von Hippel-Lindau Syndrome:
Characteristics:Inheritance:
Von Hippel-Lindau Syndrome:
Autosomal dominant 57
Von Hippel-Lindau Disease:
Autosomal dominant 58
Prevelance:
Von Hippel-Lindau Disease:
1-9/100000 (United Kingdom, United Kingdom, Denmark, Denmark) 58
Age Of Onset:
Von Hippel-Lindau Disease:
Adolescent,Adult,Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype, even within families incidence of 1 in 39,000 vhl type 1 - renal carcinoma and hemangioblastoma vhl type 2a - hemangioblastoma and pheochromocytoma vhl type 2b - renal carcinoma and pheochromocytoma vhl type 2c - pheochromocytoma only GeneReviews:24
Penetrance Vhl pathogenic variants are highly penetrant. almost all individuals who have a pathogenic variant in vhl are symptomatic by age 65 years [maher et al 1991].
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Endocrine diseases Cardiovascular diseases
ICD10:
31
32
Orphanet: 58
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MedlinePlus Genetics: 42 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.Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous in times of stress or trauma, such as when undergoing surgery or in an accident, or during pregnancy.About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.Noncancerous tumors may also develop in the liver and lungs in people with von Hippel-Lindau syndrome. These tumors do not appear to cause any signs or symptoms. MalaCards based summary: Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to hemangioblastoma and pancreatic serous cystadenoma, and has symptoms including vertigo and tinnitus. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Signal Transduction and Malignant pleural mesothelioma. The drugs Ranibizumab and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, pancreas and kidney, and related phenotypes are hypertension and renal cell carcinoma MedlinePlus: 41 What is Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body. They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract. The tumors are usually benign (non-cancerous). But some tumors, such as those in the kidney and pancreas, can become cancerous. What causes Von Hippel-Lindau disease (VHL)? Von Hippel-Lindau disease (VHL) is a genetic disease. It is inherited, which means that it is passed down from parent to child. What are the symptoms of Von Hippel-Lindau disease (VHL)? Symptoms of VHL 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 High blood pressure How is Von Hippel-Lindau disease (VHL) diagnosed? Detecting and treating VHL early is important. Your health care provider may suspect that you have VHL if you have certain patterns of cysts and tumors. There is a genetic test for VHL. If you have it, you will need other tests, including imaging tests, to look for tumors and cysts. What are the treatments for Von Hippel-Lindau disease (VHL)? Treatment can vary, depending on the location and size of the tumors and cysts. It usually involves surgery. Certain tumors may be treated with radiation therapy. The goal is to treat growths while they are small and before they do permanent damage. You will need to have careful monitoring by a doctor and/or medical team familiar with the disorder. NIH: National Institute of Neurological Disorders and Stroke OMIM®: 57 Von Hippel-Lindau syndrome (VHLS) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; 611183) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B. Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease. (193300) (Updated 08-Dec-2022) NINDS: 52 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals 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, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer. GARD: 19 Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a genetic change in the VHL gene and is inherited in an autosomal dominant manner. UniProtKB/Swiss-Prot: 73 VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst). Orphanet: 58 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. Wikipedia: 75 Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder... more...
GeneReviews:
NBK1463
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Human phenotypes related to Von Hippel-Lindau Syndrome:58 30 (show all 48)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:193300 (Updated 08-Dec-2022)UMLS symptoms related to Von Hippel-Lindau Syndrome:vertigo; tinnitus GenomeRNAi Phenotypes related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:25 (show top 50) (show all 52)
MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:45 (show all 21)
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Drugs for Von Hippel-Lindau Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 35)
Interventional clinical trials:(show all 38)
Cochrane evidence based reviews: von hippel-lindau disease |
Organs/tissues related to Von Hippel-Lindau Syndrome:
MalaCards :
Spinal Cord,
Pancreas,
Kidney,
Eye,
Brain,
Retina,
Liver
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Articles related to Von Hippel-Lindau Syndrome:(show top 50) (show all 3134)
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ClinVar genetic disease variations for Von Hippel-Lindau Syndrome:5 (show top 50) (show all 1395)
UniProtKB/Swiss-Prot genetic disease variations for Von Hippel-Lindau Syndrome:73 (show top 50) (show all 104)
Cosmic variations for Von Hippel-Lindau Syndrome:8 (show top 50) (show all 6629)
Copy number variations for Von Hippel-Lindau Syndrome from CNVD:6
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Search
GEO
for disease gene expression data for Von Hippel-Lindau Syndrome.
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Pathways related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:(show all 27)
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Cellular components related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:
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