Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

Von Hippel-Lindau disease (VHL) is one of the most common inherited neoplasia syndromes and is characterized by highly vascular tumors of the eyes, brain, and spine, as well as benign and malignant tumors and/or cysts of the kidneys, adrenal medullae and sympathetic paraganglia, endolymphatic sac, epididymis, and broad ligament. Since the discovery of the VHL gene in 1993, more than 900 familie...

Von Hippel-Lindau disease: a genetic study.

Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between fam...

[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...

Von 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...

Von Hippel-Lindau disease.