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The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the VHL gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease, which is characterized by hemangioblastomas of the brain, spinal cord and retina. It is also associated with kidney and pancreatic lesions.
Von Hippel–Lindau disease ( VHL ), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. [3] It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor ...
Some common symptoms of VHL disease include: headaches. poor balance. dizziness. weakness in your limbs. hearing loss in one ear. high blood pressure. The onset of symptoms from VHL disease can ...
headaches. sweating. high blood pressure that may be resistant to conventional medications. rapid heart rate or palpitations. abdominal pain. irritability and anxiety. constipation. Common risk ...
Epidemiology. This is a very rare tumor, since only about 1 in 35,000 to 40,000 people have VHL, of whom about 10% have endolymphatic sac tumors. Patients usually present in the 4th to 5th decades without an gender predilection. The tumor involves the endolymphatic sac, a portion of the intraosseous inner ear of the posterior petrous bone.
Pheochromocytoma. Pheochromocytoma is a rare tumor of the adrenal medulla composed of chromaffin cells, also known as pheochromocytes. [3] When a tumor composed of the same cells as a pheochromocytoma develops outside the adrenal gland, it is referred to as a paraganglioma. [4]
PERRLA is an acronym used to document a common pupillary response test. It helps eye doctors remember what to check for when examining your pupils. Your eyes, besides allowing you to see the world ...
Hepcidin is a protein that in humans is encoded by the HAMP gene. Hepcidin is a key regulator of the entry of iron into the circulation in mammals. [4] During conditions in which the hepcidin level is abnormally high, such as inflammation, serum iron falls due to iron trapping within macrophages and liver cells and decreased gut iron absorption.