Von Hippel-Lindau Syndrome: Clinical Features, Genetics and Surveillance of a Family
نویسندگان
چکیده
منابع مشابه
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerab...
متن کامل[von Hippel-Lindau syndrome].
LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...
متن کاملVon Hippel-Lindau Syndrome.
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous sys...
متن کاملA Review of Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome (VHL) is a familial neoplastic condition seen in approximately 1 in 36,000 live births. It is caused by germline mutations of the tumor suppressor gene VHL, located on the short arm of chromosome 3. While the majority of the affected individuals have a positive family history, up to 20% of cases arise from de novo mutations. VHL syndrome is characterized by the presen...
متن کاملThe Genetic and Clinical Aspects of Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome is a genetic disorder, which predisposes the individual to the formation of highly vascularized tumors that demonstrate age dependent penetrance. The disease is caused by mutations in Von Hippel-Lindau tumor suppressor gene present in short arm of chromosome 3. The disease is characterized by development of CNS hemangioblastomas, phaeochromocytoma, renal cyst, clear c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Internal Medicine Research
سال: 2020
ISSN: 2688-5654
DOI: 10.26502/aimr.0035