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Potential causes
Genetic causes: 80% or more of rare diseases are genetic in origin. Sometimes one gene (as in alpha-1 antitrypsin deficiency) or multiple genes (as in Williams-Beuren syndrome) contribute to manifestations of the disorder. They can be inherited or arise in sporadic or chance mutations.
May 26, 2023
Jan 10, 2020 · Environmental factors, such as diet, smoking, or exposure to chemicals, also can play a role in rare diseases. Such factors may directly cause ...
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Profile of Rare Diseases - NCBI - National Institutes of Health (NIH)
www.ncbi.nlm.nih.gov › NBK56184
Others arise from exposure to infections or toxins, from faulty immune responses, or occasionally from adverse responses to therapeutic interventions for other ...
Knowledge about risk factors for rare genetic diseases or rare traits has the potential to not only make an immediate impact on the lives of patients with these ...
May 8, 2021 · The similar burden may stem from rare diseases mostly being severe, chronic, progressive, degenerative, and associated with a shortened life ...
Rare diseases are present across the medical spectrum. Some are widely recognized by name, such as cystic fibrosis, while others are less known, ...
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... diseases whose primary risk factors are innate or congenital and therefore irremovable. Additionally, many rare diseases have a long list of characteristics ...
Broad researchers study several rare inherited diseases, including muscle disorders, mitochondrial disorders, and kidney disease. Knowledge about risk ...
Having a relative with a disease that is more rare in a certain gender (for example, a female with heart disease). Having a combination of diseases that run in ...
A rare disorder is a disease or condition that affects fewer than 200,000 Americans. Cumulatively, there are more than 10,000 rare diseases affecting more than ...
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