Genetic diseases 2024, December

Alkaptonuria (protection) is a disease in which the body does not break down two amino acids - phenylalanine and tyrosine. As a consequence, the product of their transformations ...…

Wolf-Hirschhorn syndrome is a group of birth defects that consists of a complex group of conditions. Due to the fact that they are characteristic, this rare genetic disease ...…

Galactosemia is a rare genetic disorder that results from the body's inability to convert galactose into glucose. As a result of this dysfunction, in galactosemia ...…

Mucopolysaccharidosis (MPS) is a rarely diagnosed, genetic metabolic disease that damages many organs, and thus -...…

Phenylketonuria is an inherited metabolic disease. It consists in an abnormal transformation of one of the amino acids - phenylalanine. In the treatment of phenylketonuria bard ...…

Neurofibromatosis (neurofibromatosis) is an incurable genetic disease included in the group of phacomatoses. The symptoms of neurofibromatosis vary, but ...…

Pompe disease is a rare, genetically determined metabolic disease in which the body does not break down glycogen into glucose. As a consequence, glycogen ...…

Heterochromia is an extremely rare defect that affects approximately 1 percent of the population. It consists in a different position of the dye on at least two parts of the iris of one ...…

What is the mechanism of Fuchs dystrophy and how is it treated?…

Hello! I am the mother of a 6-year-old suffering from phenylketonuria. After a long struggle, we finally got a genetic test and therefore I have a question. At my ...…

Gene inheritance is a complicated matter. It is known that at the moment of conception, a decision is made about many of the child's characteristics. Genes decide what eye color or skin color ...…

Bartek Bułat was born with tibial hemimelia - a congenital lack of a tibia. Doctors initially suggested the parents amputate, but Dr. Dror Paley of The Pa ...…

My boyfriend has been feeling bad for a long time. He's dizzy, as…

Why is it possible that parents have Rh + blood and Rh children?…

Hello! I am 38 years old, six months ago my dad died of colorectal cancer, his father died of cirrhosis of the liver. From mom's side, my grandmother died of liver cancer, and s ...…

Gitelman syndrome is an inherited, congenital kidney disease. It is a condition that is usually mild. It does not affect the patient's life expectancy or functional ...…

Fat swelling, or lipoedema, is a disease involving the subcutaneous tissue, and consists in symmetrical, disproportionate accumulation of excessive amounts of tissue ...…

Gaucher disease is a rare genetic disease that can lead to dysfunction of the liver and spleen, as well as skeletal and nervous systems, making it impossible to ...…

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital absence or underdevelopment of the uterus and vagina. Patients with MRKH syndrome cannot have vaginal intercourse ...…

Maple syrup disease (MSUD) is a condition in which the body fails to break down three proteins - leucine, isoleucine and valine. As a consequence, these proteins ...…

TAR syndrome is a rare, inherited disease of the blood and bones. A child with TAR is born without a radius and with a low number of platelets (thrombocytopenia ...…

Usher syndrome is a rare genetic disease characterized by hearing loss and progressive dysfunction of the eyesight. Ultimately it leads to c ...…

Smith-Lemli-Opitz syndrome is a rare metabolic disease in which the body does not make enough cholesterol. This rare disease develops ...…

A cell is the smallest part of an organism capable of carrying out life processes on its own. It is a combination of two cells, i.e. a sperm and an egg ...…

Which features of appearance are genetically determined? How is hair, eye and height color inherited? Gentlemen often say: you want to know how your d ...…

Fabry disease is a rare genetic disease that suggests its symptoms include degeneration of the joints or heart disease. This makes it much more difficult to set up early ...…

Cowden syndrome is a condition that increases the risk of developing certain types of cancer. People diagnosed with Cowden's disease are included in the group ...…

Familial adenomatous polyposis of the colon (FAP) is an inherited disease whose symptoms are caused by the presence of multiple polyps in the large intestine. ...…

Progressive ossifying myositis (fibrodysplasia, FOP) is a disease in which muscles and joints slowly turn into bone, leading to ...…

Genetic diseases are a large group of diseases related to abnormalities in the human genetic material. Find out what are the most common diseases ...…