The disease was first described in 1958. It is transmitted by an autosomal recessive type of inheritance. The primary biochemical defect in this type of protein metabolism disturbance is t...

Amavrotic idiocy is a hereditary disease characterized by progressive loss of vision and intellectual degradation in combination with other symptoms of nervous system damage. The disease was firs...

Such deformations are divided into 5 main groups: 1) occlusion of the back of the nose( saddle nose); 2) long nose; 3) Humpbacked nose; 4) combined deformations( long and humpy nose)...

Most hereditary skin diseases have predominantly ectodermal and ecomodermal origin. The main group consists of monogenic autosomal dominant diseases, autosomal recessive dermatoses are less fr...

Down's syndrome( disease) has a rather high prevalence: 120-140 children per 100,000 newborns. The incidence of this syndrome affects the age of the mother. At the age of a woman over 45, th...

When the "Human Genome" program was created, three main goals of this program were identified: the creation of an accurate genetic map, the creation of a physical map of the human genome and the ...

Chronic gastritis, gastroduodenitis is a chronic inflammatory-dystrophic lesion of the gastric and duodenal mucosa prone to progressive exacerbation with periodic exacerbations. The inciden...

Functional disorders of the colon are one of the most common diseases of the digestive system, according to different authors, from 30 to 70% of the structure of diseases of the stomach and colon...

The nucleus of each somatic cell of the human body contains 46 chromosomes. The set of chromosomes of each individual, both normal and pathological, is called a karyotype. Of the 46 chromosomes t...

Meiosis is the process of dividing the nuclei of germ cells when they are converted into gametes. Meiosis includes two cell divisions, which are called respectively meiosis I and meiosis II...

Marfan syndrome is a hereditary disease of connective tissue. For the first time such a disease was described by the scientist Williams in 1876. Subsequently, the disease was also described by Ma...

Shereshevsky-Turner syndrome was first described in 1925 by the German scientist NA Sherezhevsky, and complete clinical manifestations were described by X. X. Turner in 1938. In their honor ...

Monogenic hereditary diseases are also called Mendelian because they are inherited according to the rules established by Gregor Mendel in 1865. The main merit of Mendel is that, based on a qua...

Syndrome Schwamman-Diamond - congenital hypoplasia of the pancreas, combined with a decrease in the number of leukocytes in the blood, low growth and anomaly of bones. This disease is a freque...

In the early 40's. XX century.there were separate descriptions of cases of hereditary hemolytic anemia without the main, as believed at that time, its sign - the appearance of microspherocytes...

The decrease in the activity of this enzyme is accompanied by inadequate synthesis of such hormones as cortisol and aldosterone, as well as the accumulation of intermediates( metabolites) as a...

Peptic ulcer is a polygenically inherited chronic disease that occurs with the formation of ulcers in the stomach or duodenum with possible progression and development of complications. In the...

Cystic fibrosis is a hereditary disease due to a defect in the gene responsible for the synthesis of the transport protein. This impairment changes the normal process: the transition of chlori...