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[edit source]
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.
Chromosomal Disorders[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
References[edit | edit source]
- "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 | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD