Browsing: Genetic Diseases

The page provides quick access to a list of common genetic diseases, syndromes, health conditions, and other topics of health importance. The list is organized alphabetically. Links are provided to respective diseases sections that serve as a comprehensive and ultimate guide about the disease or health condition.

Genes are the main building blocks of heredity in our body. They are passed through generations. Genes are made up of DNA, which holds instructions for creating proteins. Proteins are the molecules which performs all the functions of the body. If any change occurs in a gene, an improper or non-functional protein is developed. This protein does not perform its function, thereby leading to a disorder.

A genetic disease or a genetic disorder is defined as a disease or disorder which occurs due to an abnormality in an individual’s genome, which can even change a person’s entire genetic makeup. The abnormality may range from a distinct mutation in a single base in the DNA of a single gene or a chromosomal abnormality, as a result of addition or deletion of an entire chromosome or set of chromosomes.

Majority of genetic disorders are inherited from parents, while others may occur as random changes or mutations in a preexisting gene, due to exposure from an environmental toxin or viral infection.

Some common genetic diseases include Cri du chat, Down syndrome, familial hypercholesterolemia, fragile X syndrome, klinefelter syndrome, keratoconus, Parkinson’s disease, phenylketonuria, sickle cell disease and turner syndrome.