Von Hippel-Lindau Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Cancer diseases
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Aliases & Descriptions for Von Hippel-Lindau Syndrome:
Orphanet epidemiological data:53
von hippel-lindau disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom); Age of onset: Adult; Age of death: elderly
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]...
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:51 Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of... (193300) more...
MalaCards based summary: Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to renal cell carcinoma and pheochromocytoma, and has symptoms including sensorineural hearing impairment, nystagmus and pancreatic cysts. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are Immune response_Oncostatin M signaling via JAK-Stat in human cells and Hypoxic and oxygen homeostasis regulation of HIF-1-alpha. Affiliated tissues include kidney, pancreas and brain, and related mouse phenotypes are limbs/digits/tail and skeleton.
Genetics Home Reference:25 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.
NIH Rare Diseases:47 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 mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors. Last updated: 2/2/2016
MedlinePlus:37 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 stroke
NINDS:48 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.
UniProtKB/Swiss-Prot:69 Von Hippel-Lindau disease: 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).
GeneReviews for NBK1463
Human phenotypes related to Von Hippel-Lindau Syndrome:63 53 (show all 58)
UMLS symptoms related to Von Hippel-Lindau Syndrome:vertigo
Drugs for Von Hippel-Lindau Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 49)
Interventional clinical trials:(show all 35)
Search NIH Clinical Center for Von Hippel-Lindau Syndrome
MalaCards organs/tissues related to Von Hippel-Lindau Syndrome:35
Kidney, Pancreas, Brain, Spinal cord, Retina, Adrenal gland, Eye
MGI Mouse Phenotypes related to Von Hippel-Lindau Syndrome:40 (show all 21)
Articles related to Von Hippel-Lindau Syndrome:(show top 50) (show all 72)
UniProtKB/Swiss-Prot genetic disease variations for Von Hippel-Lindau Syndrome:69 (show all 104)
Clinvar genetic disease variations for Von Hippel-Lindau Syndrome:5 (show all 125)
Cosmic variations for Von Hippel-Lindau Syndrome:8 (show top 50) (show all 816)
Copy number variations for Von Hippel-Lindau Syndrome from CNVD:6
Search GEO for disease gene expression data for Von Hippel-Lindau Syndrome.
Pathways related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:(show all 16)
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 13)
Molecular functions related to Von Hippel-Lindau Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet