genetics

19/09/2023

Genetics is an integral part of modern medicine, which explains and studies the possibilities of diagnosing and treating many diseases. Genetics is focused on the study of genetic diseases not only of an individual, but also of his entire family.

Title	Summary	Learn more
1p36 deletion syndrome \| What we need to know	1p36 deletion syndrome is a chromosomal disorder that usually causes severe mental retardation. People with the syndrome...	Learn more
XXYY syndrome What we need to know	XXYY syndrome is a sex chromosome abnormality in which males have an extra X and Y chromosome. XXYY …	Learn more
Aplastic anemia What we need to know	Aplastic anemia is a rare and very serious blood disorder. It is caused by bone marrow damage, which...	Learn more
Autosomal recessive polycystic kidney syndrome (ARPKD). What we need to know	A cyst is a formation filled with liquid. It comes in different sizes and appears in different areas of the body. The term "Poly" is used by many...	Learn more
Becker and Duchenne Muscular Dystrophies \| What you need to know	Muscular dystrophies are a group of genetic diseases characterized by loss of muscle mass and progressive weakness. Both …	Learn more
Galactosemia What we need to know	Galactose is a sugar found in milk (including breast milk). Galactosemia is a rare genetic disease that...	Learn more
Gaucher disease \| What you need to know	Gaucher disease is a genetic disorder that causes bone pain, anemia, organ enlargement, and bleeding. There are three types of the disease…	Learn more
Down's syndrome What we need to know	Down's syndrome is associated with the presence of an extra chromosome in the 21st pair of chromosomes. A normal person has 46 chromosomes...	Learn more
DiGeorge's syndrome What we need to know	DiGeorge syndrome is a chromosomal mutation that often has no genetic character. Girls and boys with DiGeorge syndrome...	Learn more
Edwards syndrome What we need to know	Edwards syndrome is a hereditary disease caused by trisomy of the 18th chromosome and is manifested by multiple organ malformations. …	Learn more
Thalassemia What we need to know	Thalassemia belongs to the group of hereditary hemolytic anemias. Hemolytic anemias are a large group of diseases that differ from each other in reasons, clinical...	Learn more
Jacobs syndrome (XYY) \| What we need to know	Human karyotype (set of chromosomes) consists of 23 pairs, or 46 chromosomes. 22 pairs of chromosomes - autosomal, ...	Learn more
Klinefelter's syndrome What we need to know	Klinefelter syndrome is a chromosomal disorder characterized by the presence of an extra X chromosome in males. This is due to meiosis...	Learn more
Lactose intolerance What we need to know	Lactose is milk sugar, which is transformed with the participation of specific enzymes. Intolerance develops when lactose conversion processes are disturbed. …	Learn more
Sickle cell anemia What we need to know	Sickle cell anemia is a hereditary disease in which the red blood cells have a sickle (crescent) shape and their...	Learn more
Niemann-Pick disease \| What you need to know	Niemann-Pick disease is a genetic, autosomal recessive disease that disrupts the breakdown of cholesterol and other lipids in cells.	Learn more
Sweating and its relationship with genetic factors What we need to know	Sweating is a physiological process that begins for various reasons in response to an increase in body temperature. It serves to self-cool the body...	Learn more
Familial hypercholesterolemia \| What you need to know	Familial hypercholesterolemia is an autosomal dominant disorder characterized by impaired low-density lipoprotein metabolism. The disease develops in the presence of low-density lipoproteins …	Learn more
Patau's syndrome What we need to know	Patau syndrome is a genetic/chromosomal disorder caused by an abnormality of chromosome 13 in some or all of the body's cells.	Learn more
Pernicious (B12 deficiency) anemia What we need to know	Same as: Biermer's Disease Pernicious anemia is a condition developed as a result of vitamin B12 deficiency. …	Learn more
Pompe disease (glycogen storage disease – type 2) \| What you need to know	What is Pompe disease? Pompe disease is a genetic condition characterized by the accumulation of glycogen (a complex carbohydrate) in the cells of the liver.	Learn more
Triple X syndrome \| What we need to know	Triple X syndrome (trisomy X) is a rare disease in which female babies are born with three X...	Learn more
Triple X chromosome syndrome \| What we need to know	X chromosome trisomy (or triple X chromosome syndrome, or 47XXX) is a genetic disorder. It belongs to aneuploidy...	Learn more
Smith-Magen syndrome (SMS). What we need to know	Smith-Magen syndrome is a chromosomal disorder, a complex developmental disorder that affects multiple organ systems in the body. Violation...	Learn more
Turner's syndrome What we need to know	Turner's syndrome is a hereditary disease accompanied by severe hypoplasia of the ovaries and internal genital organs, ...	Learn more
Fanconi anemia \| What you need to know	Fanconi anemia is a rare genetic disease that affects the bone marrow and other organs. People with Fanconi anemia …	Learn more
Phenylketonuria What we need to know	Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called phenylketonuria (PKU), is a rare inherited disease that causes the body to produce an amino acid...	Learn more
Fragile X Syndrome \| What you need to know	Fragile X Syndrome Fragile X syndrome is an inherited disease that is the most common cause of intellectual disability...	Learn more
fructose What we need to know	Fructosuria is a condition developed as a result of disruption of fructose metabolism, when the concentration of fructose in the urine and blood increases. this …	Learn more
Canavan Disease \| What You Need to Know	Canavan disease is a rare genetic leukodystrophic neurodegenerative disorder that affects the white matter of the brain and spinal cord.	Learn more
Cystic fibrosis What we need to know	Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat...	Learn more
Jacobs syndrome What we need to know	Most people have 46 chromosomes in each cell. In males, this usually involves one X chromosome and...	Learn more
Hypochromic anemia What we need to know	Anemia is defined as a decrease in the number of red blood cells in the circulating blood. It is a widespread pathology in the population. …	Learn more