Q. What are 5 genetic diseases?
Doctor Answer is medically reviewed by SecondMedic medical review team.
Genetic diseases, also known as genetic disorders or inherited diseases, are conditions caused by abnormalities in an individual's DNA. There are many genetic diseases, each with its own unique characteristics. Here are five examples:
Cystic Fibrosis: Cystic fibrosis is a hereditary disease that primarily affects the respiratory and digestive systems. It is caused by mutations in the CFTR gene, leading to the production of thick, sticky mucus that can clog the airways and lead to chronic lung infections, breathing difficulties, and digestive problems.
Huntington's Disease: Huntington's disease is an autosomal dominant genetic disorder caused by mutations in the HTT gene. It affects the central nervous system and typically manifests in mid-adulthood. Symptoms include progressive motor dysfunction, cognitive decline, and psychiatric disturbances.
Sickle Cell Anemia: Sickle cell anemia is a genetic disorder that affects hemoglobin, the protein responsible for carrying oxygen in red blood cells. Individuals with sickle cell disease have abnormal hemoglobin, leading to misshaped red blood cells that can block blood vessels, causing pain, anemia, and other complications.
Down Syndrome: Down syndrome is a chromosomal disorder caused by an extra copy of chromosome 21 (Trisomy 21). It results in developmental delays, intellectual disability, distinctive facial features, and an increased risk of certain medical conditions like heart defects and leukemia.
Cystinosis: Cystinosis is a rare genetic disorder that affects the transport of the amino acid cystine out of cells, leading to its accumulation within various tissues. This buildup can cause damage to the kidneys, eyes, muscles, and other organs. There are different forms of cystinosis, including infantile nephropathic cystinosis, which typically appears in infancy.
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