List of genetic disorders

A genetic disorder is a condition caused by a change or mutation in an individual's DNA. These changes can be inherited from parents or occur spontaneously. Some common genetic disorders include:

• Cystic fibrosis - a genetic disorder that affects the respiratory, digestive, and reproductive systems.
• Down syndrome - a genetic disorder that results in intellectual disability and physical abnormalities.
• Fragile X syndrome - a genetic disorder that affects the X chromosome and leads to intellectual disability, behavioral problems, and physical abnormalities.
• Hemophilia - a genetic disorder that affects the blood's ability to clot properly, leading to excessive bleeding.
• Marfan syndrome - a genetic disorder that affects the connective tissue, leading to abnormalities in the bones, joints, and other body systems.
• Muscular dystrophy - a group of genetic disorders that affect the muscles and lead to progressive weakness and wasting.
• Phenylketonuria (PKU) - a genetic disorder that affects the metabolism of the amino acid phenylalanine, leading to intellectual disability and other health problems.
• Sickle cell anemia - a genetic disorder that affects the shape of red blood cells, leading to a decrease in their ability to carry oxygen.
• Tay-Sachs disease - a genetic disorder that affects the breakdown of a fatty substance called ganglioside, leading to the accumulation of a toxic substance in the brain and nervous system.
• Turner syndrome - a genetic disorder that affects females and results in a variety of physical and developmental abnormalities.

NIH genetic and rare disease info

• NIH info on List of genetic disorders

List of genetic disorders is a rare disease.

• Genetic disorders are diseases that are caused by abnormalities in an individual's genetic material, which can be inherited or occur as a result of spontaneous mutation. They range from minor variations to major changes that can affect the development or function of one or more systems in the body.

File:Table Comparison of rare genetic disorders that can be confused with A-T.jpg

Table Comparison of rare genetic disorders that can be confused with A-T

Chromosomal Disorders

• These occur when there are missing or extra copies of chromosomes, or parts of chromosomes.
• Down Syndrome: Caused by an extra copy of chromosome 21.
• Turner Syndrome: Occurs in females when one of the X chromosomes is partially or completely missing.
• Klinefelter Syndrome: Occurs in males when there is an extra X chromosome.

Single-Gene Disorders

• These occur when a mutation affects a single gene.
• Cystic Fibrosis: A disorder that affects the respiratory and digestive systems, caused by mutations in the CFTR gene.
• Sickle Cell Disease: A blood disorder caused by a mutation in the HBB gene.
• Huntington's Disease: A neurodegenerative disorder caused by a mutation in the HTT gene.

Multifactorial Disorders

• These occur as a result of mutations in multiple genes, often coupled with environmental factors.
• Heart Disease: Various types can have genetic components, such as mutations in genes related to cholesterol metabolism.
• Diabetes: Both type 1 and type 2 diabetes have genetic components, but they are also strongly influenced by environmental factors.
• Cancer: Many forms of cancer can have genetic components, including breast, colon, and lung cancer.

Mitochondrial Disorders

• These occur when there are mutations in the non-chromosomal DNA of mitochondria.
• Leber's Hereditary Optic Neuropathy (LHON): A condition that can cause sudden vision loss, caused by mutations in mitochondrial genes.
• Mitochondrial Myopathy: A group of neuromuscular diseases caused by damage to the mito

chondria.

See Also

• Genetic Testing
• Chromosome
• Gene
• Mutation

References

• "Genetic Disorders". U.S. National Library of Medicine.
• "List of genetic disorders". NHS UK.
• "Types of Genetic Disorders". Stanford Children's Health.