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.

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.

List of genetic disorders Resources
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