What Are Some Common Genetic Diseases?


Some common genetic diseases are cystic fibrosis, trisomy 13, Down syndrome, Tay-Sachs disease, Turner syndrome, Klinefelter syndrome and Huntington's disease. Genetic disorders can involve chromosomal defects in which there are either extra chromosomes or part of the chromosome may be missing, states the Children's Hospital of Wisconsin. Some examples of these types of genetic disorders are trisomy 18, trisomy 13 and trisomy 21.

In each one of these chromosomal disorders, there are three chromosomes instead of the normal two. For example, trisomy 21, which is also called Down syndrome, occurs when there is an extra number 21 chromosome. Another type of genetic disorder is Klinefelter syndrome, in which there is an extra X chromosome in males.

Tay-Sachs disease occurs when the Hexosaminidase A enzyme does not function properly, leading to defective cells in the central nervous system, reports the World Health Organization. This is an inherited disease most prevalent in Ashkenazi Jews of eastern Europe. Huntington's disease is another disorder that affects the brain. The onset of this disease occurs between the ages of 30 and 45. Patients with Huntington's slowly lose their mental capacity.

Cystic fibrosis is a severe disorder in which there is extensive damage to the lungs. This is due to a defect in the cells that produce mucus in the lung's lining, leading to the formation of thick mucus secretion. However, the digestive system may also be affected by cystic fibrosis.

Although these are some main genetic disease, there can be many more, such as progeria, Marfan syndrome, Fragile X syndrome, Gaucher disease and hemophilia, notes the National Institutes of Health's National Human Genome Research Institute.