Von Hippel-Lindau Disease

There are several variants of the disease associated with disturbances in the connection of blood vessels and tumor growth of blood cells. Congenital von Hippel-Landau disease is the best known example of a hereditary syndrome of multiple endocrine disorders. Hereditary transmission of the recessive VHL gene occurs, which regulates the expression of a protein that cleaves the α-subunit of the tubulin complex in glial cells and cancer cells. When it is disturbed, multiple benign and malignant neoplasms occur. Errors in nucleotide pairs accumulate in the VHL gene during fertilization of an egg or sperm. Damage to the neurodigestive system in children is usually associated with the development of cerebellar tumors, which can be fatal.

Parry-Robin syndrome is a rare hereditary disease that leads to abnormal formation of limbs, insufficient development of muscle tissue, Peters-Kebsch syndrome, and excessive thyroid function. Accompanied by convulsions, decreased intelligence and headaches. Its cause is a condition in which the set of genes in one of the “tails” of the chromosomes differs from normal. Developmental defects and damage to one of the chromosomes occur. This form of mutation on one chromosome is called a haplotype

Von Göppel-Lindau disease is one of the most common hereditary diseases of the urinary system. In this disease, mutations accumulate in the VHL gene, which encodes the proteasome suppressive family of subunits. Such single mutations of the gene lead to the fact that the synthesis of the VHL protein is significantly reduced, and the gene itself is under the control of the mutant oncogene protein HIF-1. It is known that most tumors are characterized by the accumulation of VHL gene mutations. However, “random” somatic mutations of this gene in some cases lead to the formation of a benign mesenteric tumor of the neuroendocrine tumor family, called Hippel-Lindau syndrome. This disease was first described in 1936 by German ophthalmologist Helmut Hippegli and Swiss neurologist Lindo. There are known cases of its description during pregnancy and was accompanied by the absence of any toxicosis in the fetus.